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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=430",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=428",
"results": [
{
"created": "2024-06-28T12:31:36.611146+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.92",
"user_name": "Hamish Scott",
"item_type": "entity",
"text": "reviewed gene: ERG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: cytopenia, Thrombocytopenia, MDS, Lymphedema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:49:46.246001+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TLN1 as ready",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:49:46.229701+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:49:43.688666+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TLN1 as Amber List (moderate evidence)",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:49:43.677598+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:49:36.253147+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.28",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TLN1 was added\ngene: TLN1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TLN1 were set to 30888838; 37979122\nPhenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TLN1 was set to AMBER\ngene: TLN1 was marked as current diagnostic\nAdded comment: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nbut AMBER rating\r\n10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. \nSources: Literature",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:19:29.902416+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.22",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36084847; Phenotypes: {Lewy body dementia, susceptibility to} (MIM# 127750); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:01:08.283911+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PTGIR as ready",
"entity_name": "PTGIR",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:01:08.262820+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ptgir has been classified as Red List (Low Evidence).",
"entity_name": "PTGIR",
"entity_type": "gene"
},
{
"created": "2024-06-28T11:01:02.620613+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PTGIR was added\ngene: PTGIR was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: PTGIR was set to Unknown\nPublications for gene: PTGIR were set to 32531060; 37979122\nReview for gene: PTGIR was set to RED\ngene: PTGIR was marked as current diagnostic\nAdded comment: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nPMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia. \r\nHowever, this gene is NOT LoF constraint in gnomad v4.\r\n200 hets for an NMD variant \nSources: Literature",
"entity_name": "PTGIR",
"entity_type": "gene"
},
{
"created": "2024-06-28T10:56:02.189217+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PKD1 as ready",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-06-28T10:56:02.175150+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Red List (Low Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-06-28T10:55:57.106621+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PKD1 was added\ngene: PKD1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PKD1 were set to 35630097; 26798684; 26971055\nPhenotypes for gene: PKD1 were set to Polycystic kidney disease 1\tMIM#173900\nReview for gene: PKD1 was set to RED\ngene: PKD1 was marked as current diagnostic\nAdded comment: PMID: 37979122; listed as \"likely monogenic disease effect\" \r\n\r\n\r\nMultiple reports of SCAD in ADPKD individuals. However, genetics analysis were not performed in any of them. (PMID: 35630097, 26798684, 26971055)\r\n\r\nPMID: 35630097; Manuscript also reviews spontaneous ICA dissection with ADPKD but no variants \nSources: Literature",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-06-28T10:42:43.404118+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-06-28T10:42:43.392498+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Red List (Low Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-06-28T10:42:36.785960+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMX1B were set to 37979122; 29650765\nPhenotypes for gene: LMX1B were set to Nail-patella syndrome\tMIM#161200\nReview for gene: LMX1B was set to RED\ngene: LMX1B was marked as current diagnostic\nAdded comment: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nHowever, only a single patient found in literature\r\nPMID: 29650765; 1x individual with SCAD and an NMD fs \nSources: Literature",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:54:20.908688+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MYLK as Green List (high evidence)",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:54:20.894683+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mylk has been classified as Green List (High Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:54:12.434457+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.23",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MYLK was added\ngene: MYLK was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466\nPhenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7\tMIM#613780\nReview for gene: MYLK was set to GREEN\ngene: MYLK was marked as current diagnostic\nAdded comment: Association between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).\r\n\r\n\"Definitive\" by Clingen Aortopathy Working Group. \nSources: Literature",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:52:33.892435+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: LOX as ready",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:52:33.866308+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: lox has been classified as Green List (High Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:52:31.012976+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: LOX as Green List (high evidence)",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:52:30.997452+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: lox has been classified as Green List (High Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:52:24.719569+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: LOX was added\ngene: LOX was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LOX were set to 30071989; 26838787; 30675029.\nPhenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10\tMIM#617168\nReview for gene: LOX was set to GREEN\ngene: LOX was marked as current diagnostic\nAdded comment: Reviewed as having 'strong' gene-disease association by the HTAAD working group, based on ClinGen framework (PMID: 30071989).\r\n\r\nMissense and nonsense variants described in six unrelated families with HTAAD and functional studies of three missense variants demonstrated a reduction in LOX activity (Guo et.al. (2016); PMID: 26838787).\r\n\r\nTwo further individuals with negative family history: one individual has pathogenic nonsense variant and second individual has VUS missense variant (Renner et al. (2019); PMID: 30675029). \nSources: Literature",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:43:50.397305+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:43:50.387838+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:43:48.146795+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: FLNA as Green List (high evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:43:48.125715+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:43:41.149306+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: FLNA were set to 29334594\nPhenotypes for gene: FLNA were set to periventricular heterotopia 1\tMIM#300049\nReview for gene: FLNA was set to GREEN\ngene: FLNA was marked as current diagnostic\nAdded comment: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). \nSources: Literature",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:29:42.396671+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:29:42.385528+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:29:39.435106+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: FBN1 as Green List (high evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:29:39.425364+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:29:29.999498+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBN1 were set to 29357934\nPhenotypes for gene: FBN1 were set to Marfan syndrome\tMIM#154700; familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related\nReview for gene: FBN1 was set to GREEN\ngene: FBN1 was marked as current diagnostic\nAdded comment: Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ).\r\n\r\ndefinitive by clingen curation \nSources: Literature",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:24:39.195023+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL5A1 as ready",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:24:39.180377+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Green List (High Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:24:36.168067+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COL5A1 as Green List (high evidence)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:24:36.151351+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Green List (High Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:24:28.352559+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COL5A1 was added\ngene: COL5A1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL5A1 were set to 32938213\nPhenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 1\tMIM#130000; Fibromuscular dysplasia, multifocal\tMIM#619329\nReview for gene: COL5A1 was set to GREEN\ngene: COL5A1 was marked as current diagnostic\nAdded comment: GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.\r\n(https://www.ncbi.nlm.nih.gov/books/NBK1244/)\r\n\r\nMultifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur.\r\n\r\n4 unrelated individuals reported, but all had the same variant, p.Gly514Ser, and haplotype analysis was consistent with founder effect. Further rare missense variants were identified in a cohort, although limited information available. \nSources: Literature",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:18:22.199533+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.14",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:18:22.190383+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.14",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:18:17.109769+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.14",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COL3A1 as Green List (high evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:18:17.100080+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.14",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:18:07.970498+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL3A1 were set to 30071989\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type\tMIM#130050\nReview for gene: COL3A1 was set to GREEN\ngene: COL3A1 was marked as current diagnostic\nAdded comment: Classified as Definitive by Clingen for heritable thoracic aortic aneurysm and dissection; Ehlers-Danlos syndrome, vascular type. \nSources: Literature",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:14:37.307724+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.12",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:14:37.288478+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.12",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:14:26.588326+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.12",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TGFBR2 as Green List (high evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:14:26.578527+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.12",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:14:18.187128+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.11",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR2 were set to 30071989; 27879313\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2\tMIM#610168\nReview for gene: TGFBR2 was set to GREEN\ngene: TGFBR2 was marked as current diagnostic\nAdded comment: \"Definitive\" by ClinGen Aortopathy working group.\r\n\r\nReviewed in PMID 27879313 (265 cases with variants in TGFBR2). \nSources: Literature",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:13:17.084652+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:13:17.074989+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:13:13.033463+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TGFBR1 as Green List (high evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:13:13.024156+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:12:52.963640+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.9",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Spontaneous coronary artery dissection. Sources: Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR1 were set to 36584339; 30071989; 27879313\nPhenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1\tMIM#609192\nReview for gene: TGFBR1 was set to GREEN\ngene: TGFBR1 was marked as current diagnostic\nAdded comment: \"Definitive\" by ClinGen Aortopathy working group.\r\n\r\nReviewed in PMID 27879313 (176 cases with variants in TGFBR1).\r\n\r\nAMBER for AR disease: PMID 36584339\r\nBiallelic variants reported in a single family with two sibs. Presented with severe dilatation of aorta, diaphragmatic hernia, skin translucency, and profound joint laxity at birth \nSources: Radboud University Medical Center, Nijmegen",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:10:46.589699+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TGFB3 as ready",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:10:46.574184+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:10:42.003933+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TGFB3 as Green List (high evidence)",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:10:41.984930+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:10:34.475664+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.7",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFB3 were set to 30071989; 25835445\nPhenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5 MIM#615582\nReview for gene: TGFB3 was set to GREEN\ngene: TGFB3 was marked as current diagnostic\nAdded comment: Uncertain for isolated aneurysm, but causes broader connective tissue disorder phenotype. 43 patients from 11 reported with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlapped clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity \nSources: Literature",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:04:13.821680+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.6",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TGFB2 as ready",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:04:13.811300+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.6",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:04:11.856860+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.6",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: TGFB2 as Green List (high evidence)",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:04:11.826359+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.6",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:04:03.590289+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.5",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TGFB2 was added\ngene: TGFB2 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFB2 were set to 30071989; 22772371\nPhenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4\tMIM#614816\nPenetrance for gene: TGFB2 were set to Complete\nReview for gene: TGFB2 was set to GREEN\ngene: TGFB2 was marked as current diagnostic\nAdded comment: \"Definitive\" by ClinGen Aortopathy Working Group.\r\n\r\nPMID: 22772371: 4 families \nSources: Literature",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:01:45.679896+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.4",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:01:45.650175+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.4",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:01:42.613934+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.4",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: SMAD3 as Green List (high evidence)",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:01:42.604120+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.4",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-06-28T09:01:34.358248+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.3",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SMAD3 was added\ngene: SMAD3 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD3 were set to 21217753; 30661052; 30071989\nPhenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3, MIM# 613795\nReview for gene: SMAD3 was set to GREEN\ngene: SMAD3 was marked as current diagnostic\nAdded comment: Missense variants within the MH2 domain have been suggested to exert dominant negative mechanism by disprupting the formation of homo-oligomers (PMID: 30661052) Loss-of-function proven for PTCs (PMID: 30661052)\r\n\r\n\"Definitive\" by ClinGen Aortopathy working group. \nSources: Literature",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-06-28T08:58:14.733406+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: SMAD2 as ready",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-06-28T08:58:14.723224+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-06-28T08:58:11.602843+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: SMAD2 as Green List (high evidence)",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-06-28T08:58:11.593190+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-06-28T08:58:05.227850+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.1",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD2 were set to 29967133\nPhenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656\nPenetrance for gene: SMAD2 were set to Complete\nReview for gene: SMAD2 was set to GREEN\ngene: SMAD2 was marked as current diagnostic\nAdded comment: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome. \nSources: Literature",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-06-28T08:37:10.558668+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.0",
"user_name": "Ain Roesley",
"item_type": "panel",
"text": "Added Panel Spontaneous coronary artery dissection\nSet panel types to: Victorian Clinical Genetics Services",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-06-27T20:10:10.817020+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.27",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: PURA: Changed rating: RED",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-06-27T20:09:44.455166+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.27",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: PURA was added\ngene: PURA was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PURA were set to 36117209\nPhenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, MIM# 616158\nAdded comment: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected. \nSources: Expert list, Expert Review",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-06-27T19:48:13.744148+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.27",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: PHF21A was added\ngene: PHF21A was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHF21A were set to 36117209\nPhenotypes for gene: PHF21A were set to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725\nReview for gene: PHF21A was set to RED\nAdded comment: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2024-06-27T19:31:41.616669+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.27",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KDM5C were set to 36117209; 36434256\nPhenotypes for gene: KDM5C were set to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534\nReview for gene: KDM5C was set to RED\nAdded comment: First reported CAS case with a de novo frameshift HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of apraxia or dyspraxia though.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \nSources: Expert list, Expert Review",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-06-27T18:28:50.361593+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.27",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPK were set to 36117209\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome, MIM# 616580\nReview for gene: HNRNPK was set to RED\nAdded comment: First reported CAS case with a de novo nonsense HNRNPK variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2024-06-27T14:45:24.109268+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SOX2 was added\ngene: SOX2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX2 were set to PMID: 38553553\nPhenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900\nReview for gene: SOX2 was set to RED\nAdded comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553). SOX2 disorders are associated with a spectrum of phenotypes which frequently include psychomotor delay, hypotonia, dystonia (including status dystonicus), spastic diplegia/quadriplegia. \nSources: Literature",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-06-27T14:37:28.430344+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R2 were set to PMID: 38553553\nPhenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387\nMode of pathogenicity for gene: PIK3R2 was set to Other\nReview for gene: PIK3R2 was set to AMBER\nAdded comment: Single individual with de novo heterozygous p.G373R variant described in WGS study of clinically confirmed CP (PMID: 38553553). This variant is reported multiple times in ClinVar and literature as a recurrent pathogenic activating mutation. Additional case in literature with same variant and spastic hemiplegia (PMID: 26860062). Constitutional and mosaic mutations in PIK3R2 are associated with a range of developmental brain disorders. \nSources: Literature",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-06-27T14:23:20.508827+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PHKA2 was added\ngene: PHKA2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PHKA2 were set to PMID: 38553553\nPhenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa, 306000\nReview for gene: PHKA2 was set to RED\nAdded comment: Single individual with de novo hemizygous variant described in WGS study of clinically confirmed CP (PMID: 38553553). Variant has multiple entries in ClinVar - pathogenic/likely pathogenic. GSD9A is primarily associated with liver dysfunction, however dysregulation of glucose metabolism can cause damage to the CNS. \nSources: Literature",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2024-06-27T14:11:40.564760+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: PHIP: Added comment: Additional individual with a pathogenic de novo frameshift insertion described in WGS study of clinically confirmed CP (PMID: 38553553).; Changed rating: GREEN; Changed publications: PMID: 38693247, PMID:33528536, PMID: 38553553",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2024-06-27T14:06:23.080062+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PDE10A was added\ngene: PDE10A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PDE10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PDE10A were set to PMID: 38553553\nPhenotypes for gene: PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922\nReview for gene: PDE10A was set to RED\nAdded comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553). \r\n\r\nBiallelic variants have been reported to cause a hyperkinetic movement disorder with onset in infancy (PMID: 27058446). \nSources: Literature",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2024-06-27T13:58:37.775518+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38553553; Phenotypes: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2024-06-27T13:53:39.475541+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: KDM3B was added\ngene: KDM3B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM3B were set to PMID: 38553553\nPhenotypes for gene: KDM3B were set to Diets-Jongmans syndrome, MIM#618846\nReview for gene: KDM3B was set to RED\nAdded comment: Single individual with de novo likely pathogenic variant described in WGS study of clinically confirmed CP (PMID: 38553553). \nSources: Literature",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2024-06-27T13:44:34.023656+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: GATAD2B: Added comment: Additional case with de novo heterozygous LP variant described in WGS study of clinically confirmed CP (PMID: 38553553). Same variant previously reported pathogenic from clinical testing in ClinVar, but no phenotypic data.; Changed publications: PMID: 38693247, PMID: 38553553",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2024-06-27T13:34:35.717345+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ERLIN2 was added\ngene: ERLIN2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ERLIN2 were set to PMID: 38553553\nPhenotypes for gene: ERLIN2 were set to Spastic paraplegia 18A, autosomal dominant, MIM#620512; Spastic paraplegia 18B, autosomal recessive, MIM#611225\nReview for gene: ERLIN2 was set to RED\nAdded comment: Single individual with homozygous frameshift insertion in ERLIN2 described in WGS study of clinically confirmed CP (PMID: 38553553). Both monoallelic and biallelic variants have been reported to cause hereditary spastic paraplegia. \nSources: Literature",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2024-06-27T07:00:33.578274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from {Lumbar disc herniation, susceptibility to} 603932; connective tissue disorder MONDO:0003900, THBS2-related to Ehlers-Danlos syndrome, classic type, 3, MIM# 620865",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-06-27T06:59:51.357821+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from connective tissue disorder MONDO:0003900, THBS2-related to Ehlers-Danlos syndrome, classic type, 3, MIM# 620865",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-06-27T06:59:14.860051+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THBS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 3, MIM# 620865; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-06-27T02:08:29.263776+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.186",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528103; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:14:38.163632+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTR1 as ready",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:14:38.154483+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Red List (Low Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:14:34.167100+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LZTR1 as Red List (low evidence)",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:14:34.150080+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Red List (Low Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:13:56.204141+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:13:56.195372+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T20:13:51.848220+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCCC2 as Amber List (moderate evidence)",
"entity_name": "MCCC2",
"entity_type": "gene"
}
]
}