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"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1425",
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{
"created": "2021-02-03T14:45:11.128656+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRB was added\ngene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: THRB were set to 24847459\nPhenotypes for gene: THRB were set to HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance, Selective Pituitary; Resistance to thyroid hormone (RTH); 145650; PRTH; REFETOFF SYNDROME; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; thyroid hormone unresponsiveness, generalized RTH, RTH beta; Thyroid Hormone Resistance (monoallelic); Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650; THYROID HORMONE UNRESPONSIVENESS; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES; Refetoff syndrome; GRTH",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:11.084030+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRA was added\ngene: THRA was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THRA were set to 27144938; 22168587; 27381958; 2567082; 24847459; 23940126; 22494134\nPhenotypes for gene: THRA were set to Congenital hypothyroidism or thyroid agenesis; delayed dentition; macrocephaly; Hypothyroidism, Congenital, Nongoitrous, 6, 614450; Hypothyroidism, congenital, nongoitrous, 6, 614450; neurodevelopmental delay; Resistance to thyroid hormone; constipation; skeletal dysplasia; growth retardation; macrocytic anaemia",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:11.042950+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TG was added\ngene: TG was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TG were set to 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.; 23164529\nPhenotypes for gene: TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:11.000480+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBL1X was added\ngene: TBL1X was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TBL1X were set to 27603907; 30591955\nPhenotypes for gene: TBL1X were set to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.962059+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A5 was added\ngene: SLC5A5 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A5 were set to 9171822; 16418213\nPhenotypes for gene: SLC5A5 were set to Apparent athyreosis on nuclear medicine scan; childhood onset hypothyroidism; goitre; Thyroid dyshormonogenesis 1, 274400; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.921579+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A7 was added\ngene: SLC26A7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A7 were set to 30333321; 29546359\nPhenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis)",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.883107+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A4 was added\ngene: SLC26A4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A4 were set to 11932316; 9398842\nPhenotypes for gene: SLC26A4 were set to enlarged vestibular aqueduct; Sensorineural deafness; partial iodide organification defect; mild hypothyroidism; Pendred syndrome, 274600 (congenital deafness and thyroid goitre); goitre; Mondini defect",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.844972+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC16A2 were set to 24847459\nPhenotypes for gene: SLC16A2 were set to MENTAL RETARDATION AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.807333+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SECISBP2 was added\ngene: SECISBP2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SECISBP2 were set to 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 22247018; 24629861; 22986150; 19602558; 21084748\nPhenotypes for gene: SECISBP2 were set to Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.768938+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PROP1 were set to 15126542; 16984240; 9768691; 15472175; 26416826 (2015 review); 23652424\nPhenotypes for gene: PROP1 were set to Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time; GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency; Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations; Pituitary hormone deficiency, combined, 2, 262600",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.724207+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKAR1A were set to 22464250; 21651393\nPhenotypes for gene: PRKAR1A were set to Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones; Acrodysostosis 1, with or without hormone resistance, 101800\nMode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.685620+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POU1F1 were set to 16060904; 11297581; 26416826\nPhenotypes for gene: POU1F1 were set to congenital hypothyroidism; Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)\nMode of pathogenicity for gene: POU1F1 was set to Other - please provide details in the comments",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.648646+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX8 was added\ngene: PAX8 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAX8 were set to PMID:23647375; PMID:9590296\nPhenotypes for gene: PAX8 were set to Hypothyroidism, Congenital, Nongoitrous, 2, 218700; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700; eutopic gland-in-situ; urogenital tract malformations",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.610651+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTX2 was added\ngene: OTX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OTX2 were set to 18628516; 26416826 (2015 review)\nPhenotypes for gene: OTX2 were set to GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.573740+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-1 were set to 11854319; 24714694\nPhenotypes for gene: NKX2-1 were set to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.523285+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX4 was added\ngene: LHX4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX4 were set to 25955177; 26416826 (2015 review); 11567216\nPhenotypes for gene: LHX4 were set to anterior pituitary hypoplasia; GH, TSH, ACTH, variable gonadotrophin deficiencies; etopic posterior pituitary; Pituitary hormone deficiency, combined, 4, 262700; cerebellar abnormalities",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.460117+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LHX3 were set to 18407919; 10835633; 26416826 (2015 review); 21249393\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, \t221750; sensorineural deafness; GH, TSH, LH, FSH, PRL deficiency; limited neck rotation; short cervical spine; anterior pituitary may be normal, hypoplastic or enlarged",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.404997+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IYD was added\ngene: IYD was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IYD were set to 24629858 (Review); 18765512; PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families; PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation\nPhenotypes for gene: IYD were set to childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.364683+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRS4 was added\ngene: IRS4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IRS4 were set to 30061370; 10644546\nPhenotypes for gene: IRS4 were set to Congenital central hypothyroidism",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.325389+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGSF1 was added\ngene: IGSF1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598\nPhenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.278517+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HESX1 were set to 9620767; 26416826 (2015 review); 11136712\nPhenotypes for gene: HESX1 were set to GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.242100+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: GNAS were set to 27922245; 17299070; 23412865\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.204874+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS3 was added\ngene: GLIS3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLIS3 were set to 26259131; 16715098\nPhenotypes for gene: GLIS3 were set to polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.166723+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXE1 was added\ngene: FOXE1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)\nPhenotypes for gene: FOXE1 were set to choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate\nMode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.121391+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DUOXA2 was added\ngene: DUOXA2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DUOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOXA2 were set to 27349010; 21367925; 28100324; 26758695; 18042646\nPhenotypes for gene: DUOXA2 were set to transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.081597+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DUOX2 was added\ngene: DUOX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: DUOX2 were set to 24423310; 16134168; 27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease; 12110737; 27166716\nPhenotypes for gene: DUOX2 were set to transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2021-02-03T14:45:10.056780+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Congenital hypothyroidism",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-03T13:52:51.992207+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DHODH as ready",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:52:51.978397+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhodh has been classified as Green List (High Evidence).",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:52:49.267660+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DHODH as Green List (high evidence)",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:52:49.257269+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhodh has been classified as Green List (High Evidence).",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:52:41.542234+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DHODH was added\ngene: DHODH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHODH were set to 19915526\nPhenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism\nReview for gene: DHODH was set to GREEN\ngene: DHODH was marked as current diagnostic\nAdded comment: >3 cases reported. Biallelic variants cause an inborn error of pyrimidine metabolism. \nSources: NHS GMS",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:45:23.881353+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:45:23.873387+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:45:20.914994+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:45:20.906915+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:45:11.733947+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 7560069; 9634533\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome MIM#270400; Disorders of sterol biosynthesis\nReview for gene: DHCR7 was set to GREEN\ngene: DHCR7 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Smith-Lemli-Opitz syndrome is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. \nSources: NHS GMS",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:41:10.201284+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:41:10.189692+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:41:00.946454+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DHCR24 as Green List (high evidence)",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:41:00.935922+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:40:51.343530+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR24 were set to 11519011; 21559050; 21671375\nPhenotypes for gene: DHCR24 were set to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols\nReview for gene: DHCR24 was set to GREEN\ngene: DHCR24 was marked as current diagnostic\nAdded comment: At least 4 families reported. Desmosterolosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. \nSources: NHS GMS",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:32:06.516055+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CTH: Changed rating: GREEN",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:31:37.891340+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DCXR as Red List (low evidence)",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:31:37.884489+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Clinically benign condition",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:31:37.863386+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dcxr has been classified as Red List (Low Evidence).",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-03T13:30:11.219749+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DCXR was added\ngene: DCXR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCXR were set to 22042873\nPhenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism\nReview for gene: DCXR was set to GREEN\nAdded comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign \nSources: NHS GMS",
"entity_name": "DCXR",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:14:11.461651+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP7B1 as ready",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:14:11.451124+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:14:08.760451+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP7B1 as Green List (high evidence)",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:14:08.749924+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:13:46.187384+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP7B1 were set to 9802883; 18252231; 31337596\nPhenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis\nReview for gene: CYP7B1 was set to GREEN\ngene: CYP7B1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). CYP7B1 deficiency can cause an inborn error of bile acid metabolism. \nSources: NHS GMS",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:55:08.941761+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:55:08.929468+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:55:05.786624+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:55:05.766870+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:54:56.107060+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27A1 were set to 2019602\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis\tMIM#213700; Disorders of bile acid biosynthesis\nReview for gene: CYP27A1 was set to GREEN\ngene: CYP27A1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism. \nSources: NHS GMS",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:46:46.308865+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CUBN as ready",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:46:46.291016+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cubn has been classified as Green List (High Evidence).",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:46:41.717451+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CUBN as Green List (high evidence)",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:46:41.707088+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cubn has been classified as Green List (High Evidence).",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:46:31.740337+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CUBN was added\ngene: CUBN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CUBN were set to 10080186; 31613795\nPhenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)\nReview for gene: CUBN was set to GREEN\ngene: CUBN was marked as current diagnostic\nAdded comment: Well-established gene-disease associations (see OMIM entry). CUBN deficiency causes an inborn error of cobalamin metabolism. \nSources: NHS GMS",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:39:31.369851+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTSC as ready",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:39:31.361550+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:39:27.480544+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTSC as Green List (high evidence)",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:39:27.469752+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:39:20.142585+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSC was added\ngene: CTSC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSC were set to 10581027\nPhenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; other lysosomal disorder\nReview for gene: CTSC was set to GREEN\ngene: CTSC was marked as current diagnostic\nAdded comment: Well-established gene-disease associations (see OMIM entry). HMS and PLS are classified as metabolic disorders by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). \nSources: NHS GMS",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:22:05.336272+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTSC as ready",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:22:05.322429+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:22:00.467354+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTSC as Green List (high evidence)",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:22:00.456467+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:21:53.212949+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSC was added\ngene: CTSC was added to Ectodermal Dysplasia. Sources: Other\nMode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSC were set to 10581027\nPhenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000\nReview for gene: CTSC was set to GREEN\ngene: CTSC was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM). Ectodermal dysplasia (involving skin and teeth) is a feature of the conditions caused by biallelic variants in this gene. \nSources: Other",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:40:37.573669+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTH as ready",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:40:37.565382+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cth has been classified as Red List (Low Evidence).",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:40:33.035682+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTH as Red List (low evidence)",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:40:33.030390+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Likely a benign biochemical anomaly not associated with disease",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:40:33.006381+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cth has been classified as Red List (Low Evidence).",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:39:51.629470+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTH was added\ngene: CTH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTH were set to 12574942; 20584029; 24761004; 15151507\nPhenotypes for gene: CTH were set to Cystathioninuria MIM#219500\nReview for gene: CTH was set to RED\nAdded comment: >3 cases reported with cystathioninuria with no striking pathologic features. Due to inconsistency and wide variety of disease associations, it is considered to be a benign biochemical anomaly. Null mouse model demonstrates homocysteinemia/cystathioninemia but develop with no apparent abnormality. \nSources: NHS GMS",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:06:32.322060+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:06:32.311554+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:06:26.067674+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CBS as Green List (high evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:06:26.059567+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-02-03T10:06:16.734300+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBS were set to 7967489\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism\nReview for gene: CBS was set to GREEN\ngene: CBS was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Homocystinuria due to CBS deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism. \nSources: NHS GMS",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:54:20.292389+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABCB4 as ready",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:54:20.283658+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:54:17.485194+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCB4 as Green List (high evidence)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:54:17.474778+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:54:08.077577+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB4 was added\ngene: ABCB4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCB4 were set to 8666348\nPhenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism\nReview for gene: ABCB4 was set to GREEN\ngene: ABCB4 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). PFIC3 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB4 deficiency causes an inborn error of bile acid biosynthesis. \nSources: NHS GMS",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:46:54.760467+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:46:54.749522+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:46:46.621385+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCB11 as Green List (high evidence)",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:46:46.608186+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-02-03T09:46:35.485381+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCB11 were set to 9806540\nPhenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 MIM#601847; disorder of bile acid metabolism\nReview for gene: ABCB11 was set to GREEN\ngene: ABCB11 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). PFIC2 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB11 deficiency causes an inborn error of bile acid biosynthesis. \nSources: NHS GMS",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:52:37.711101+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC30 as ready",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:52:37.700898+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc30 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:52:31.988996+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJC30 as Green List (high evidence)",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:52:31.978795+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc30 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:52:02.837959+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC30 was added\ngene: DNAJC30 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC30 were set to 33465056\nPhenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy\nReview for gene: DNAJC30 was set to GREEN\nAdded comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases). All three variants absent from gnomAD. Incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations. All 3 variants in the J domain of the protein. Functional evidence. \nSources: Literature",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:48:56.711259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC30 as ready",
"entity_name": "DNAJC30",
"entity_type": "gene"
},
{
"created": "2021-02-03T07:48:56.703452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc30 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC30",
"entity_type": "gene"
}
]
}