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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=642",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=640",
"results": [
{
"created": "2023-02-02T08:29:46.389314+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP54 as ready",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:29:46.288135+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:29:40.387066+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP54 as Amber List (moderate evidence)",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:29:40.375665+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:29:22.620616+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP54 was added\ngene: NUP54 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP54 were set to 36333996\nPhenotypes for gene: NUP54 were set to Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia\nReview for gene: NUP54 was set to AMBER\nAdded comment: From PMID: 36333996.; Harrer, P. et al. (2022) Ann Neurol. doi: 10.1002/ana.26544. \r\n\r\nThree patients from unrelated families with dystonia and/or Leigh(-like) syndromes, with biallelic variants in NUP54, in the C-terminal protein region that interacts with NUP62. Onset was between 12 months and 5 years. All had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia. \r\n\r\nPatient / Family A (consanguineous) was homozygous for c.1073T>G p.(Ile358Ser). \r\n\r\nPatient / Family B was compound heterozygous for c.1073T>G p.(Ile358Ser) and c.1126A>G p.(Lys376Glu).\r\n\r\nPatient / Family C was compound heterozygosity for c.1410_1412del p.(Gln471del) and two missense variants c.1414G>A, p.(Glu472Lys); c.1420C>T, p.(Leu474Phe)\r\n\r\nThe phenotypes were similar to those of NUP62 including early-onset dystonia with dysphagic choreoathetosis, and T2-hyperintense lesions in striatum.\r\n\r\nBrain MRIs showed T2/FLAIR hyperintensities in the dorsal putamina. \r\n\r\nWestern blots showing reduced expression of NUP54 and its interaction partners NUP62/NUP58 in patient fibroblasts. \nSources: Literature",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:25:10.362529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SARS were changed from neurodevelopmental disorder MONDO#070009, SARS1-related to neurodevelopmental disorder MONDO#070009, SARS1-related; Genetic peripheral neuropathy MONDO#0020127, SARS1-related",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:24:42.998140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SARS were set to 28236339; 34570399; 35790048; 36041817",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-02-02T08:24:15.809858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SARS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:24:22.425889+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TMEM43.",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:23:57.198350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: LAMP2.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:22:54.553180+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: LOX.",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:21:59.196836+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX1 as Red List (low evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:21:59.180693+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Red List (Low Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:21:42.357243+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:20:28.716552+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:20:09.859021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKG1 as Green List (high evidence)",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:20:09.848361+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkg1 has been classified as Green List (High Evidence).",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:20:00.620774+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PRKG1.",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:19:50.170701+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKG1: Changed rating: GREEN",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:19:27.667253+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH11 as Green List (high evidence)",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:19:27.634483+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Green List (High Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:19:19.117966+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MYH11.",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:19:10.537705+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYH11: Changed rating: GREEN",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:51.995206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LOX as Green List (high evidence)",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:51.980158+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lox has been classified as Green List (High Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:40.851705+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LOX: Changed rating: GREEN",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:20.334397+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: KCNQ1.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:13.402657+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ1 as Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:13.391354+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:18:00.438389+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: Changed rating: GREEN",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:17:38.978807+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DSG2.",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:17:17.771951+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:14:03.777881+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:13:54.387736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JUP as Green List (high evidence)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:13:54.377939+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:13:45.722217+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: JUP.",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:13:36.039373+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JUP: Added comment: Screen for bi-allelic disease as can be earlier onset, more severe.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:12:40.823576+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:12:28.494622+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSP as Green List (high evidence)",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:12:28.484792+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Green List (High Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:12:19.534892+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DSP.",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:12:08.540603+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DSP: Added comment: Screen for bi-allelic disease as can be more severe, earlier onset.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:11:03.789342+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CALM3 were changed from Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM#\t618782 to Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM#\t618782; Long QT syndrome 16, MIM#618782",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:10:41.686318+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CALM3: Added comment: Variants in this gene also cause Long QT syndrome, and other Long QT syndrome genes have been included in the panel.; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782, Long QT syndrome 16, MIM#618782",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:09:44.193290+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: CALM3.",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2023-02-01T18:09:26.437249+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: CALM2.",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:14:18.993043+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: LAMP2.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:09:13.883467+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: TRPM4.",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:07:51.044356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rated as 'strong actionability' in paediatric patients by ClinGen together with other ARVC genes.\r\n\r\nARVC is a progressive heart disease characterized by degeneration of cardiac myocytes and their subsequent replacement by fat and fibrous tissue primarily in the right ventricle, though the left ventricle may also be affected. It is associated with an increased risk of ventricular arrhythmia (VA) and sudden cardiac death (SCD) in young individuals and athletes. The VA is usually in proportion to the degree of ventricular remodeling and dysfunction, and electrical instability. The mechanism of SCD is cardiac arrest due to sustained ventricular tachycardia (VT) or ventricular fibrillation (VF).\r\n\r\nAge of onset is highly variable with a mean age of diagnosis of 31 years and a range of 4 to 64 years.\r\n\r\nAntiarrhythmic drugs and beta-blockers are not recommended in healthy gene carriers. In patients with ARVC and ventricular arrhythmia (VA), a beta-blocker or other antiarrhythmic is recommended.\r\n\r\nRecommendations for ICD placement in patients with ARVC differ across guidelines, both in terms of the indications for placement and whether recommendations are based on evidence or expert opinion. Recommendations based on non-randomized studies support ICD placement in patients with ARVC and an additional marker of increased risk of SCD (resuscitated SCA, sustained VT hemodynamically tolerated, and significant ventricular dysfunction with RVEF or LVEF ≤35%) and in patients with ARVC and syncope presumed to be due to VA if meaningful survival greater than 1 year is expected. The presence of a combination of other risk factors (e.g., male sex, frequent PVCs, syncope) may also be used to indicate implantation.\r\n\r\nSerial screening for the emergence of cardiomyopathy is recommended for clinically unaffected individuals who carry a variant associated with ARVC, including:\r\n\r\n• Medical history, with special attention to heart failure symptoms, arrhythmias, presyncope or syncope, and thromboembolism\r\n• Physical examination with special attention to cardiac and neuromuscular systems and examination of the integumentary system if ARVC is suspected\r\n• Electrocardiography\r\n• Cardiovascular imaging.\r\n\r\nPenetrance:\r\nIn a study of 264 probands with genetic variants associated with ARVC who presented alive, 73% had sustained VA, 13% had symptomatic HF, and 5% had cardiac death (2% SCD, 2% HF, and 1% HF with VA) during median 8-year follow-up. Among 385 family members of the probands who also carried an ARVC variant, 32% met clinical criteria for ARVC, 11% experienced sustained VA, and 2% died during follow-up (1% from SCD, 0.5% from HF, and 0.5% non-cardiac issues). In a second study of 220 probands with genetic variants associated with ARVC who presented alive, 54% presented with sustained VT. In 321 family members of the probands who also carried an ARVC variant, 14% were symptomatic at presentation but 8% experienced VA during a mean 4-year follow-up. For all 541 cases, 60% met clinical criteria for ARVC, 30% had sustained VA, 14% developed ventricular dysfunction, 5% experienced HF, 4% had a resuscitated SCD/VF, and 2% died over a mean follow-up of 6 years.; to: Rated as 'strong actionability' in paediatric patients by ClinGen together with other ARVC genes.\r\n\r\nARVC is a progressive heart disease characterized by degeneration of cardiac myocytes and their subsequent replacement by fat and fibrous tissue primarily in the right ventricle, though the left ventricle may also be affected. It is associated with an increased risk of ventricular arrhythmia (VA) and sudden cardiac death (SCD) in young individuals and athletes. The VA is usually in proportion to the degree of ventricular remodeling and dysfunction, and electrical instability. The mechanism of SCD is cardiac arrest due to sustained ventricular tachycardia (VT) or ventricular fibrillation (VF).\r\n\r\nAge of onset is highly variable with a mean age of diagnosis of 31 years and a range of 4 to 64 years.\r\n\r\nAntiarrhythmic drugs and beta-blockers are not recommended in healthy gene carriers. In patients with ARVC and ventricular arrhythmia (VA), a beta-blocker or other antiarrhythmic is recommended.\r\n\r\nRecommendations for ICD placement in patients with ARVC differ across guidelines, both in terms of the indications for placement and whether recommendations are based on evidence or expert opinion. Recommendations based on non-randomized studies support ICD placement in patients with ARVC and an additional marker of increased risk of SCD (resuscitated SCA, sustained VT hemodynamically tolerated, and significant ventricular dysfunction with RVEF or LVEF ≤35%) and in patients with ARVC and syncope presumed to be due to VA if meaningful survival greater than 1 year is expected. The presence of a combination of other risk factors (e.g., male sex, frequent PVCs, syncope) may also be used to indicate implantation.\r\n\r\nSerial screening for the emergence of cardiomyopathy is recommended for clinically unaffected individuals who carry a variant associated with ARVC, including:\r\n\r\n• Medical history, with special attention to heart failure symptoms, arrhythmias, presyncope or syncope, and thromboembolism\r\n• Physical examination with special attention to cardiac and neuromuscular systems and examination of the integumentary system if ARVC is suspected\r\n• Electrocardiography\r\n• Cardiovascular imaging.\r\n\r\nPenetrance:\r\nIn a study of 264 probands with genetic variants associated with ARVC who presented alive, 73% had sustained VA, 13% had symptomatic HF, and 5% had cardiac death (2% SCD, 2% HF, and 1% HF with VA) during median 8-year follow-up. Among 385 family members of the probands who also carried an ARVC variant, 32% met clinical criteria for ARVC, 11% experienced sustained VA, and 2% died during follow-up (1% from SCD, 0.5% from HF, and 0.5% non-cardiac issues). In a second study of 220 probands with genetic variants associated with ARVC who presented alive, 54% presented with sustained VT. In 321 family members of the probands who also carried an ARVC variant, 14% were symptomatic at presentation but 8% experienced VA during a mean 4-year follow-up. For all 541 cases, 60% met clinical criteria for ARVC, 30% had sustained VA, 14% developed ventricular dysfunction, 5% experienced HF, 4% had a resuscitated SCD/VF, and 2% died over a mean follow-up of 6 years.\r\n\r\nNote founder variant in Newfoundland.",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:07:29.428956+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM43: Changed rating: RED",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:02:10.777007+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN5A as Green List (high evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:02:10.761443+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:01:58.562805+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SCN5A.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-02-01T17:01:49.551210+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN5A: Changed rating: GREEN",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:58:46.612759+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNH2 as Green List (high evidence)",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:58:46.604038+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Green List (High Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:58:37.904021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: KCNH2.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:58:28.732620+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNH2: Changed rating: GREEN",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:55:33.233513+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DSC2.",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:48:44.404089+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASQ2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:48:34.428018+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASQ2 as Green List (high evidence)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:48:34.419115+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Green List (High Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:48:23.890987+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: CASQ2.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:48:13.739567+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nClinGen: 'strong actionability' both for adult and paediatric patients. Treatment: beta blockers first line; ICD. There are also numerous known arrhythmia triggers which can be avoided.\r\n\r\nThe mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nClinGen: 'strong actionability' both for adult and paediatric patients. Treatment: beta blockers first line; ICD. There are also numerous known arrhythmia triggers which can be avoided.\r\n\r\nThe mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.\r\n\r\n",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:48:01.615123+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASQ2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:47:46.283191+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASQ2: Changed rating: GREEN",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:44:25.500884+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTA2 as Green List (high evidence)",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:44:25.493536+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:44:14.715432+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ACTA2.",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:44:02.681050+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTA2: Changed rating: GREEN",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:41:16.499358+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TRDN.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:40:29.760385+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TECRL.",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:37:48.475197+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:36:04.623404+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: CALM1.",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2023-02-01T14:45:47.850736+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-01T14:09:54.746744+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-01T11:19:43.989417+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Highly variable phenotype in terms of severity and age of onset. Manifestations of the condition are generally treatable.; to: Highly variable phenotype in terms of severity and age of onset. Manifestations of the condition are generally treatable.",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:36:53.591431+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:36:53.577722+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:36:49.746930+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMBS were set to 27558376",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:36:33.739960+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMBS were changed from Acute intermittent porphyria-related leukoencephalopathy to Porphyria, acute intermittent, MIM#176000; Acute intermittent porphyria-related leukoencephalopathy",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:36:15.639380+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMBS as Green List (high evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:36:15.579384+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-31T17:35:43.352717+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27558376, 34089223; Phenotypes: Porphyria, acute intermittent, MIM#176000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-01-30T12:13:59.457585+11:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.1",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: PPM1K: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36706222; Phenotypes: Maple syrup urine disease (MSUD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:22:29.621691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21, MIM# 615294; Male infertility to Ciliary dyskinesia, primary, 21, MIM# 615294; Spermatogenic failure 80, MIM# 620222",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:21:55.942080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DRC1: Changed phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294, Spermatogenic failure 80, MIM# 620222",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:20:25.524566+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCEAL1 were changed from Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:19:47.143910+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCEAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:19:22.697236+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCEAL1 were changed from Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:18:37.578302+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCEAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:18:16.508025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCEAL1 were changed from Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:17:31.006006+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:16:54.185212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCEAL1 were changed from Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-27T09:16:00.786764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:16:56.527164+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAD as ready",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:16:56.502864+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cad has been classified as Green List (High Evidence).",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:16:51.618454+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAD as Green List (high evidence)",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:16:51.606406+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cad has been classified as Green List (High Evidence).",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:16:19.988501+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAD was added\ngene: CAD was added to gNBS. Sources: Expert list\ntreatable, metabolic tags were added to gene: CAD.\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to 28007989\nPhenotypes for gene: CAD were set to Developmental and epileptic encephalopathy 50, MIM#\t616457\nReview for gene: CAD was set to GREEN\nAdded comment: Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life.\r\n\r\nAffected children can have a favourable response to treatment with uridine, PMID 28007989 \nSources: Expert list",
"entity_name": "CAD",
"entity_type": "gene"
}
]
}