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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=650",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=648",
"results": [
{
"created": "2022-12-30T13:08:05.035624+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LOX as Amber List (moderate evidence)",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:08:04.999621+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lox has been classified as Amber List (Moderate Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:07:52.474382+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LOX was added\ngene: LOX was added to gNBS. Sources: ClinGen\nfor review, cardiac, treatable tags were added to gene: LOX.\nMode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM#617168\nPenetrance for gene: LOX were set to Incomplete\nReview for gene: LOX was set to AMBER\nAdded comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection. \nSources: ClinGen",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:05:18.475202+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:05:18.463550+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:05:14.417998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA2 were changed from Aortic aneurysm, familial thoracic to Aortic aneurysm, familial thoracic 6, MIM# 611788",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:04:59.861508+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ACTA2.\nTag cardiac tag was added to gene: ACTA2.\nTag treatable tag was added to gene: ACTA2.",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T13:04:44.942795+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:58:09.373543+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STK11 as Amber List (moderate evidence)",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:58:09.358032+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:57:56.644263+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: STK11.\nTag treatable tag was added to gene: STK11.",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:57:44.120438+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:56:05.918468+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCEE as ready",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:56:05.906022+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:56:02.052513+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCEE were changed from Methylmalonyl-CoA epimerase deficiency to Methylmalonyl-CoA epimerase deficiency MIM#251120",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:55:48.121673+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCEE as Green List (high evidence)",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:55:48.109420+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:55:38.319817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MCEE.\nTag treatable tag was added to gene: MCEE.\nTag metabolic tag was added to gene: MCEE.",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:55:23.838221+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCEE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonyl-CoA epimerase deficiency MIM#251120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:52:07.579840+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX1 as ready",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:52:07.564467+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:52:02.653531+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RUNX1 as Amber List (moderate evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:52:02.639401+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-12-30T12:51:49.047297+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RUNX1 was added\ngene: RUNX1 was added to gNBS. Sources: ClinGen\nfor review, treatable, haematological tags were added to gene: RUNX1.\nMode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399\nReview for gene: RUNX1 was set to AMBER\nAdded comment: Assessed as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nHTHCPS is characterized by mild to moderate thrombocytopenia with normal platelet size, abnormal platelet functioning (defective release of delta granules and/or aggregation defects), and an increased risk of developing a haematologic malignancy.\r\n\r\nAge of onset of bleeding can be highly variable, with some individuals presenting in early infancy and others not recognizing their symptoms until much later in life. Severe thrombocytopenia or profound platelet dysfunction can result in recognition during the perinatal or infancy period. Hematologic malignancies can occur in childhood or adulthood; the range of age of onset is wide with a median age of 33 years.\r\n\r\nUse of clotting promotors (e.g., desmopressin, epsilon aminocaproic acid, tranexamic acid) can be used for surgeries, injuries, or dental treatments. Platelet transfusions may be used for severe bleeding or procedures with a high bleeding risk.\r\n\r\nThough there is no specific treatment for HTHCPS, there are recommendations regarding the indications and timing of hematopoietic stem cell transplantation (HSCT) that vary. HSCT in pre-malignancy patients, particularly in the absence of any clonal progression, is debatable due to transplantation-associated risks and incomplete penetrance. Some suggested indications for HSCT include severe or symptomatic cytopenias, severe marrow dysplasia (particularly in the context of falling blood counts), complex or high-risk (e.g., monosomy 7) cytogenetic abnormalities (particularly if the clones are large or increasing in size) and increasing blasts >5%. \r\n\r\nConsider use of a medical alert bracelet for thrombocytopenia, platelet dysfunction, or hematologic malignancy as indicated. \nSources: ClinGen",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-12-30T10:02:45.826315+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DICER1 as ready",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-12-30T10:02:45.812406+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dicer1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-12-30T10:02:39.652502+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DICER1 as Amber List (moderate evidence)",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-12-30T10:02:39.634866+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dicer1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-12-30T10:02:28.460131+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DICER1.\nTag cancer tag was added to gene: DICER1.\nTag treatable tag was added to gene: DICER1.",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-12-30T10:02:14.703157+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DICER1 was added\ngene: DICER1 was added to gNBS. Sources: ClinGen\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DICER1 were set to DICER1 syndrome, MONDO:0017288\nPenetrance for gene: DICER1 were set to Incomplete\nReview for gene: DICER1 was set to AMBER\nAdded comment: Rated as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nA multiple registry study examining neoplasm incidence in a cohort containing 102 non-probands with DICER1 pathogenic variants (3,344 person-years of observation in non-probands) found that by age 10 years, 5.3% (95% CI, 0.6% to 9.7%) of non-probands had developed a neoplasm (females, 4.0%; males, 6.6%). By age 50 years, 19.3% (95% CI, 8.4% to 29.0%) of non-probands had developed a neoplasm (females, 26.5%; males, 10.2%).\r\n\r\nMost individuals with pathogenic variants in DICER1 are healthy or have only minor DICER1-associaited conditions. The most severe manifestations tend to present in early childhood with adulthood characterized by good health. The majority of tumors in individuals with DICER1 pathogenic variants occur in individuals younger than 40. Many of these tumors typically only occur in childhood, including: PPB (before age 7), CN (before age 4), CBME typically occurs in young children, pituitary blastoma (before age 2), and childhood pineoblastoma (only one has been reported associated with a DICER1 mutation). \r\n\r\nSurveillance recommendations:\r\nIn order to detect pulmonary cysts or PPB (one of the most important causes of DICER1-associated morbidity and mortality), chest x-rays are recommended every 6 months from birth to through age 7 years and then annually from 8-12 years. A chest computed tomography (CT) (with efforts to minimize radiation) should be obtained by 9 months of age, preferably between 3 and 6 months of age and repeated at approximately 2.5 years of age. \r\n\r\nAbdominal ultrasound is recommended for the detection in infancy or at the time of the first chest CT then every 6-12 months until at least 8 years of age. Annual ultrasound may be considered until 12 years of age.\r\n\r\nBeginning at ages 8-10 females should receive pelvic ultrasound performed in conjunction with abdominal ultrasound (every 6-12 months) until at least age 40 or as needed for signs and symptoms.\r\n\r\nIndividuals should undergo thyroid ultrasound with assessment for regional adenopathy every 2 to 3 years starting at age 8 or as needed for signs and symptoms.\r\n\r\nAn annual routine dilated ophthalmologic exam with visual acuity screening is recommended from age 3 to at least age 10 for detection of CBME. \nSources: ClinGen",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:56:23.079536+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:56:23.068507+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:56:18.911496+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA1 were changed from Breast-ovarian cancer, familial, 1 to Fanconi anemia, complementation group S, MIM# 617883",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:56:06.601285+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:55:57.211497+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:55:57.199834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:55:46.799731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRCA1.\nTag haematological tag was added to gene: BRCA1.",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:55:34.352854+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group S, MIM# 617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:54:22.907439+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:54:22.895374+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:54:13.195177+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from Fanconi anaemia, complementation group D, MIM#1\t605724; Fanconi anemia, complementation group D1; Breast-ovarian cancer, familial, 2 to Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:53:56.355781+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:53:45.924462+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRCA2 as Green List (high evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:53:45.908475+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:53:33.077664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRCA2.\nTag haematological tag was added to gene: BRCA2.",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:53:22.658380+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:51:47.680906+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:51:47.668925+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:51:43.463372+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from Short QT syndrome 2, MIM#\t609621; Jervell and Lange-Nielsen syndrome; Long QT syndrome 1, MIM#\t192500; Long QT syndrome-1; Jervell and Lange-Nielsen syndrome, MIM#\t220400 to Long QT syndrome 1, MIM# 192500",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:51:29.289967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: KCNQ1.\nTag cardiac tag was added to gene: KCNQ1.\nTag treatable tag was added to gene: KCNQ1.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:51:12.700003+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:50:22.197182+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH2 as ready",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:50:22.185299+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:50:18.880955+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH2 were changed from Long QT syndrome-2 to Long QT syndrome 2, MIM# 613688",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:50:02.428173+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: KCNH2.\nTag cardiac tag was added to gene: KCNH2.\nTag treatable tag was added to gene: KCNH2.",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:49:46.515330+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:29:24.488062+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TMEM43.\nTag cardiac tag was added to gene: TMEM43.\nTag treatable tag was added to gene: TMEM43.",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:29:06.200713+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:28:11.377211+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP2 as ready",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:28:11.363568+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"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": "2022-12-30T09:28:07.669375+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:27:53.261115+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PKP2.\nTag cardiac tag was added to gene: PKP2.\nTag treatable tag was added to gene: PKP2.",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:27:36.145501+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:26:48.220954+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSP as ready",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:26:48.204789+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:26:44.430664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM#\t605676; Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis\t, MIM#615821 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:26:30.354895+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:26:18.387364+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DSP.\nTag cardiac tag was added to gene: DSP.\nTag treatable tag was added to gene: DSP.",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:26:00.466541+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:24:54.947798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG2 as ready",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:24:54.936848+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:24:50.611441+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG2 were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:24:36.519101+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DSG2.\nTag cardiac tag was added to gene: DSG2.\nTag treatable tag was added to gene: DSG2.",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:24:20.852809+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:23:31.576498+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:23:31.563437+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1757",
"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": "2022-12-30T09:23:23.978286+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12; Naxos disease to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:23:09.009871+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: JUP.\nTag cardiac tag was added to gene: JUP.\nTag treatable tag was added to gene: JUP.",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:22:52.651792+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 MIM# 611528, Naxos disease MIM# 601214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:21:21.565740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSC2 as ready",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:21:21.553532+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:21:17.993522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:21:04.996923+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:20:51.722759+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DSC2.\nTag cardiac tag was added to gene: DSC2.\nTag treatable tag was added to gene: DSC2.",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:20:37.175236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DSC2: Changed rating: AMBER",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:20:26.364105+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:12:07.367498+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:12:07.353506+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:12:02.016970+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAT as Green List (high evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:12:01.992861+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:11:47.322853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAT was added\ngene: OAT was added to gNBS. Sources: ClinGen\nfor review, treatable, metabolic tags were added to gene: OAT.\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870\nReview for gene: OAT was set to GREEN\nAdded comment: Rated as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nGA due to deficiency of the enzyme ornithine aminotransferase (OAT) is characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. GA first presents as night blindness and constriction of the visual field caused by sharply demarcated circular areas of chorioretinal atrophy in the periphery. Atrophic areas progressively increase, coalesce, and spread towards the macula leading to central visual loss and blindness (vision less than 20/200).\r\n\r\nAge at diagnosis ranges from 1 month to 44 years. The condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade of life. Myopia, night blindness, changes in the macula (including cystic changes), and visual field affection usually start in the first or second decade. Most patients with GA have posterior subcapsular cataracts by the end of the second decade. Irreversible loss of vision and blindness generally occurs between 40 and 55 years of age but is highly variable.\r\n\r\nTreatment of GA consists mainly of dietary modifications to help lower elevated systemic ornithine levels. Restriction of dietary arginine, a precursor of ornithine, appears to have therapeutic value. Pediatric patients undergoing arginine restriction should receive enough calories in their diet supplemented by essential amino acids, vitamins, and minerals to avoid malnutrition and excessive break down of endogenous proteins.\r\n\r\nA long-term observational study of 27 patients with GA, 17 who complied with the arginine-restricted diet and 10 who were noncompliant, found that at 14 years follow-up the rates of vision loss were significantly slower in the compliant group for 3 of the 4 outcome measures, when adjusted for age. \nSources: ClinGen",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:57.553403+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCSK9 as ready",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:57.537915+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcsk9 has been classified as Green List (High Evidence).",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:53.410165+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia to Hypercholesterolaemia, familial, 3, MIM# 603776",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:37.699239+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCSK9 as Green List (high evidence)",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:37.686020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcsk9 has been classified as Green List (High Evidence).",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:26.714383+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PCSK9.\nTag treatable tag was added to gene: PCSK9.\nTag metabolic tag was added to gene: PCSK9.",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T09:04:04.886115+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-12-30T08:52:52.005065+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1A were changed from Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489 to Carney complex, type 1, MIM# 160980",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-30T08:52:36.771401+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKAR1A as Green List (high evidence)",
"entity_name": "PRKAR1A",
"entity_type": "gene"
}
]
}