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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1687",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1685",
"results": [
{
"created": "2020-08-05T16:56:30.221343+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LDB3 as Amber List (moderate evidence)",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:56:30.212930+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:54:51.978273+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.78",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:49:50.771423+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BVES as ready",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:49:50.767276+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not an arrhythmogenic cardiomyopathy.",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:49:50.739040+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Red List (Low Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:49:43.360146+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BVES as Red List (low evidence)",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:49:43.349996+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Red List (Low Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:42:08.149412+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP2 as ready",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:42:08.145494+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Included due to phenotypic overlap between ARVC and DCM, limited evidence for association with DCM.",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:42:08.115223+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:41:55.249001+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKP2 as Amber List (moderate evidence)",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:41:55.238962+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:41:25.341690+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:41:25.329189+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:41:22.862695+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMD as Amber List (moderate evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:41:22.852399+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:39:56.636396+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.76",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: PKP2: Changed rating: AMBER",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:39:43.179528+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.76",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PKP2 was added\ngene: PKP2 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PKP2 were set to 15489853; 16567567\nPhenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)\ngene: PKP2 was marked as current diagnostic\nAdded comment: Mutations in the PKP2 gene have been identified in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.\r\n\r\nhttps://ghr.nlm.nih.gov/gene/PKP2\r\nPMID:15489853, 16567567\r\nhttps://doi.org/10.1371/journal.pone.0100560\r\n\r\nClinVar reports 1 variants only in an individual with DCM annotated as “LP” p.(His679Thr). No data regarding the variant associated with DCM is reported in GnomAD, supporting its low prevalence. However, if this is a variant linked to a clinical phenotype that initially manifested as ACM and then evolved into DCM is yet to be assessed. Considering that clinically cardiomyopathies are diseases with a progressive course, one cannot exclude that DCM cases carrying Pkp2 variants could be cases of advanced Arrythmogenic Cardiomyopathy (ACM or ARVC) which were missed in the initial disease phases. (https://doi.org/10.3389/fcvm.2018.00184) \nSources: Literature",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:39:28.877313+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-5 as ready",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:39:28.866066+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-5 has been classified as Red List (Low Evidence).",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:39:21.494589+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642\nPhenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy\nReview for gene: NKX2-5 was set to RED\nAdded comment: Established gene-disease association with multiple cardiac phenotypes.\r\n\r\nPMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq)\r\n\r\nPMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20.\r\n\r\nPMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity\r\n\r\nPMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation. \nSources: Expert list",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:38:21.168821+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.75",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EMD were set to 24997722\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300\nReview for gene: EMD was set to AMBER\ngene: EMD was marked as current diagnostic\nAdded comment: Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM.\r\n\r\n1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722).\r\n\r\nAfter discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel. \nSources: Literature",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:56.379605+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ILK as ready",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:56.371088+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ilk has been classified as Red List (Low Evidence).",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:53.400744+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ILK were set to 17646580; 27886618; 25163546",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:39.084021+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:18.839598+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA4 were set to ",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:12.690345+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:12.686269+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Included in the paediatric cardiomyopathy panel.",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:33:12.656807+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Red List (Low Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:32:56.770452+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:32:35.526515+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA4 as Red List (low evidence)",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:32:35.518307+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama4 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:32:34.274518+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: LAMA4.",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:32:01.141675+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAZ as Red List (low evidence)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:32:01.133454+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Red List (Low Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:31:44.976364+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ILK were set to ",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:31:34.090552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3692",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30354339, 28690296, 25503402, 27855642; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:29:12.918790+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:28:53.367824+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from to Barth syndrome (MIM# 302060)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:28:35.537214+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:28:21.855806+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAZ as Red List (low evidence)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:28:21.845617+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Red List (Low Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:25:53.720757+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.67",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:24:50.843057+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX20 as ready",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:24:50.834652+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:24:37.820562+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX20 as Amber List (moderate evidence)",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:24:37.809627+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:23:25.252380+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCAP as ready",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:23:25.247477+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Very limited evidence for a link with DCM, note most of the variants reported have a population frequency that is out of keeping for a rare Mendelian disorder.",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:23:25.208874+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:23:14.687232+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCAP as Red List (low evidence)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:23:14.678490+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:21:38.655220+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:21:38.650763+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present.",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:21:38.612231+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Amber List (Moderate Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:21:30.119896+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM#\t601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:21:10.193593+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JUP as Amber List (moderate evidence)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:21:10.184889+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Amber List (Moderate Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:20:41.428564+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:18:59.247020+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:18:42.684638+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ILK as Red List (low evidence)",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:18:42.673200+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ilk has been classified as Red List (Low Evidence).",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:17:02.963549+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM43 as ready",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:17:02.956787+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC.",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:17:02.911957+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:16:41.215960+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM43 as Amber List (moderate evidence)",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:16:41.207824+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:14:50.149847+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PRDM16.",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:14:41.574655+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM16 as ready",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:14:41.567802+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Associated with LVNC phenotype, included here due to phenotypic overlap with DCM though the evidence for association with DCM is limited.",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:14:41.539786+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:14:19.723523+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM16 as Amber List (moderate evidence)",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:14:19.714952+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:11:08.917127+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA6 as ready",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:11:08.912381+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline number of segregations done as part of the original study.",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:11:08.876642+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:11:03.518790+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA6 as Amber List (moderate evidence)",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:11:03.508394+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:06:16.440899+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:06:16.431910+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:06:09.936414+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:06:09.925044+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:05:15.095793+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:05:15.055214+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:05:11.572177+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKTN as Amber List (moderate evidence)",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:05:11.563680+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:04:58.114047+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKTN as Amber List (moderate evidence)",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:04:58.103858+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T16:04:05.234139+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FKTN.",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T14:40:16.095920+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-08-05T14:34:12.958898+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TBX20 was added\ngene: TBX20 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBX20 were set to 26118961; 17668378; 27510170\nPhenotypes for gene: TBX20 were set to Dilated cardiomyopathy\nPenetrance for gene: TBX20 were set to unknown\nReview for gene: TBX20 was set to AMBER\nAdded comment: PMID: 26118961\r\n- 1x missense (p.(Phe256Ile)) (absent in gnomAD) in a family with 4 affecteds across 2 generations (total of 3 meiosis)\r\n\r\nPMID: 17668378;\r\nDCM in 2 individuals in a family with a nonsense variant (p.(Gln195*)) (absent in gnomAD)\r\n- 1 also had mitral valve disease\r\n- the other also had atrial septal defect and pulmonary hypertension\r\n\r\nPMID: 27510170;\r\n- 1x in a DCM patient (p.(Glu143*) (absent in gnomAD)\r\n- present in 3 other affected family members across 3 generations\r\n- proband's sister and daughter also presented with congenital atrial septal defect (ASD) \nSources: Literature",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2020-08-05T13:39:14.378534+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TCAP was added\ngene: TCAP was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCAP were set to 31303467; 15582318; 24037902\nPhenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#\t601954); Cardiomyopathy, hypertrophic, 25 (MIM# \t607487)\nPenetrance for gene: TCAP were set to unknown\nReview for gene: TCAP was set to AMBER\nAdded comment: PMID: 31303467;\r\n- 1x DCM patient with a missense classified as a VUS by ACMG scheme. \r\n- Glu105Gln (143 hets in gnomAD)\r\n\r\nPMID: 15582318;\r\n- 1x DCM patient with a missense\r\n- Glu132Gln (1 het in gnomad)\r\n\r\nPMID: 24037902;\r\n- 5x in DCM cohort, all missense except 1 in-frame del\r\ngnomad counts of each variant:\r\n- Glu13del (280 hets, 1 hom)\r\n- Glu105Lys (28 hets)\r\n- Arg106Cys (5095 hets, 523 homs)\r\n- Ala118Val (80 hets, 1 hom)\r\n- Arg158Cys (absent) \nSources: Literature",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-05T13:23:10.188706+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: ATN1.",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2020-08-05T13:22:07.503242+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)\nReview for gene: JUP was set to AMBER\ngene: JUP was marked as current diagnostic\nAdded comment: Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap. \nSources: Literature",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-05T12:32:30.536799+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.\r\n\r\nPMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.\r\n\r\nPMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.\r\n\r\nPMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).\r\n\r\n1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL.\r\n\r\nPMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.\r\n\r\nPMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.\r\n\r\nPMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).\r\n\r\n1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T12:31:36.466594+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.\r\n\r\nPMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.\r\n\r\nPMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.\r\n\r\nPMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).\r\n\r\n1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.\r\n\r\nPMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.\r\n\r\nPMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.\r\n\r\nPMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).\r\n\r\n1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T12:28:45.354932+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.\r\n\r\nPMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.\r\n\r\nPMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I'm not sure where this information comes from.\r\n\r\nPMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).\r\n\r\n1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.\r\n\r\nPMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.\r\n\r\nPMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.\r\n\r\nPMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).\r\n\r\n1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-05T12:24:38.638113+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ILK",
"entity_type": "gene"
}
]
}