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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1706",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1704",
"results": [
{
"created": "2020-07-29T10:51:24.370199+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD9 as ready",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:51:24.361215+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Green List (High Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:51:19.564799+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:50:57.205507+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:50:34.225225+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:47:11.568387+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TRIM63 was added\ngene: TRIM63 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM63 were set to 30681346; 32451364\nPhenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy\nPenetrance for gene: TRIM63 were set to unknown\nReview for gene: TRIM63 was set to GREEN\nAdded comment: PMID: 30681346; \r\nLIMITED by Clingen working group (last evaluated 2018)\r\n\r\nPMID: 32451364\r\n- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.\r\n- 1 index had another pathogenic truncating variant in MYBPC3\r\n- 5 missense and 3 PTCs\r\n- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy \nSources: Literature",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:26:30.668787+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Limited evidence by ClinGen working group.\r\n\r\nVia ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found.\r\n\r\nA review of the literature finds no other reports.; to: Limited evidence by ClinGen working group.\r\n\r\nVia ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function.\r\n\r\nA review of the literature finds no other reports.",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:23:44.822241+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 28296734, 30681346, 22987565",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:20:22.077406+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 11114196, 30681346",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:20:08.907665+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 11114196, 11114196, 30681346; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:18:15.591112+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive MIM##300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:10:07.163392+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:10:07.150238+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:10:03.773171+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:09:35.114022+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWNK were set to ",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:09:12.162013+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:08:44.606528+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:06:59.181014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:06:59.172789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:06:52.658253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:06:50.373355+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:06:35.672540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWNK were set to ",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:06:19.304368+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: KLF10 was added\ngene: KLF10 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF10 were set to PMID: 22234868\nPhenotypes for gene: KLF10 were set to HCM\nReview for gene: KLF10 was set to RED\nAdded comment: Curated by ClinGen and rated as limited evidence. \r\n\r\nMisssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature. \nSources: Literature",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:00:19.748190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TWNK was changed from to Other",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:00:03.670084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T09:51:35.293956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3551",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-07-29T09:46:56.626448+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:52:51.228243+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51C as ready",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:52:51.217411+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:52:38.910128+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:52:16.848007+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD51C were set to ",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:51:54.123341+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:51:28.841518+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:45:06.009651+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE2T.",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:44:43.807097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE2T.",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:44:28.608642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Green List (high evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:44:28.598488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:44:12.040744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:43:45.132516+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Green List (high evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:43:45.122039+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:43:21.549792+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:42:55.307183+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE2T.",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:42:32.377663+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Green List (high evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:42:32.367074+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:42:06.157149+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888; Changed phenotypes: Fanconi anemia, complementation group T, MIM# 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:07:36.816628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P2RX2 as ready",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:07:36.806257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2rx2 has been classified as Green List (High Evidence).",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:07:30.552400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:07:14.247135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P2RX2 were set to ",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:06:58.291748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-07-29T08:06:36.365192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:59:10.304971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ4 as ready",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:59:10.278027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq4 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:59:04.114182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:58:53.645102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ4 were set to ",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:58:26.208953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:58:09.815388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:57:29.421514+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ4 as ready",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:57:29.410035+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq4 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:57:26.869670+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:57:01.177622+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ4 were set to ",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:56:37.059064+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-29T07:56:13.443272+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:35.308218+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRB was added\ngene: UQCRB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCRB were set to 12709789; 25446085; 28604960\nPhenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:35.254074+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC19 was added\ngene: TTC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:35.201439+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPO was added\ngene: TMPO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH\nMode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant",
"entity_name": "TMPO",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:35.147356+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:35.087794+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCAP was added\ngene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCAP were set to 21530252; 23479141\nPhenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:35.031641+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TACO1 was added\ngene: TACO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.974922+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: TAB2 was set to Unknown",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.923699+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRED1 was added\ngene: SPRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Red\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776\nPhenotypes for gene: SPRED1 were set to Legius syndrome 611431",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.872075+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEBL was added\ngene: NEBL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH\nMode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.818126+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF8 was added\ngene: NDUFAF8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF8 were set to 27499296\nPhenotypes for gene: NDUFAF8 were set to No OMIM phenotype",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.765588+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF6 was added\ngene: NDUFAF6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Victorian Clinical Genetics Services,Expert Review Red,MetBioNet\nMode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.705965+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA9 was added\ngene: NDUFA9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA9 were set to 28671271; 22114105\nPhenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.650686+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA6 was added\ngene: NDUFA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA6 were set to 30245030\nPhenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253",
"entity_name": "NDUFA6",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.598640+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYRM7 was added\ngene: LYRM7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LYRM7 were set to 29353736\nPhenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.545819+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA4 was added\ngene: LAMA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH\nMode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.494219+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ILK was added\ngene: ILK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH\nMode of inheritance for gene: ILK was set to Unknown",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.441109+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNS was added\ngene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNS were set to 27604308\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.388689+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRA1 was added\ngene: GLRA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, 149400",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.335393+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH,MetBioNet\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 27604308\nPhenotypes for gene: GBE1 were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen storage disease IV, 232500; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; DCM; Polyglucosan body disease, adult form, 263570; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; Hypertrophic-hypocontractile cardiomyopathy; Glycogen Storage Disease",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.278594+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNS was added\ngene: GALNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNS were set to 27604308\nPhenotypes for gene: GALNS were set to Mucopolysaccharidosis Type IVA; MPS IVA, Morquio A disease (MPS IV, Morquio disease); MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis IVA, 253000",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.226205+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFDH were set to 24816252; 27604308\nPhenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIC; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); HCM; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.175093+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFB were set to 27604308\nPhenotypes for gene: ETFB were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); HCM; Glutaric acidemia IIB; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.123528+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFA were set to 27604308\nPhenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.068777+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTNA was added\ngene: DTNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH\nMode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:34.011614+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 27604308\nPhenotypes for gene: DHCR7 were set to Cataracts; Intellectual disability; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.959393+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYC1 was added\ngene: CYC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.909279+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTF1 was added\ngene: CTF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH\nMode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CTF1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.858307+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPS1 were set to 24816252; 27604308\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.806550+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX6A1 was added\ngene: COX6A1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.755585+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COA7 was added\ngene: COA7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COA7 were set to 29718187; 27683825\nPhenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.702581+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: BTK was set to Unknown",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.651593+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.601901+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GAT3 were set to 27604308\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.551412+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.500602+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD1 was added\ngene: ANKRD1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH\nMode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.445393+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCC2 was added\ngene: UQCC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCC2 were set to 28804536; 24385928\nPhenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:33.395358+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGSH were set to 27604308\nPhenotypes for gene: SGSH were set to Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III",
"entity_name": "SGSH",
"entity_type": "gene"
}
]
}