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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=336",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=334",
"results": [
{
"created": "2024-12-03T16:50:55.104305+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuft1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:49:23.904818+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUFT1 was added\ngene: TUFT1 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUFT1 were set to 36689522; 36928819\nPhenotypes for gene: TUFT1 were set to Woolly hair-skin fragility syndrome, MIM# 620415",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:45:27.242106+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FMN1 as ready",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:45:27.214384+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:45:17.821911+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FMN1 as Amber List (moderate evidence)",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:45:17.789837+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:44:30.510358+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FMN1 was added\ngene: FMN1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nSV/CNV tags were added to gene: FMN1.\nMode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FMN1 were set to 20610440; 19383632; 15202026; 36928819\nPhenotypes for gene: FMN1 were set to Hearing loss disorder MONDO:0005365\nReview for gene: FMN1 was set to AMBER\nAdded comment: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)\r\n\r\nPMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome. \nSources: Literature",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:42:15.840114+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301666, 32235485, 11756598, 10997552; Phenotypes: aceruloplasminemia MONDO:0011426; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:40:43.719700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FMN1 were set to 20610440; 19383632; 15202026",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:40:16.609214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FMN1 were changed from oligosyndactyly; radioulnar synostosis; hearing loss; renal defects to Hearing loss disorder MONDO:0005365",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:39:25.026732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FMN1: Added comment: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned); Changed publications: 20610440, 19383632, 15202026, 36928819; Changed phenotypes: Hearing loss disorder MONDO:0005365",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:28:05.549170+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 27021474, 24360804, 28489334; Phenotypes: neurodegeneration with brain iron accumulation 6 MONDO:0014290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:22:45.381368+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22743658, 23447832, 29325618, 20310007; Phenotypes: Kufor-Rakeb syndrome MONDO:0011706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-12-03T15:17:36.921465+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: 20301376, 25547154; Phenotypes: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2024-12-03T14:59:44.463798+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301335, 30034812, 39014191; Phenotypes: Camurati-Engelmann disease MONDO:0007542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2024-12-03T14:18:34.515233+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 23079137, 36481973, 33078679, 35208525, 36508511; Phenotypes: sclerosteosis 1 MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2024-12-03T12:56:57.071120+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 36159186, 37448157, 39327493; Phenotypes: primary failure of tooth eruption MONDO:0007434; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2024-12-03T11:57:47.200809+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30759489; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM# 221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2024-12-03T11:42:34.225479+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: 27484770, 27485408, 30591934; Phenotypes: Myopathy, myofibrillar, 7 (MIM#617114); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KY",
"entity_type": "gene"
},
{
"created": "2024-12-03T11:36:49.897474+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:58:04.056171+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380734, 28067412; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:52:54.555030+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: POMGNT2: Changed rating: GREEN",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:52:32.453127+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: ; Mode of pathogenicity: None; Publications: 34301702; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:38:22.281106+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 34177811; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:33:11.951399+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30419932; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:27:31.896754+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2024-12-03T08:18:58.767461+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 32770643; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930, Retinitis pigmentosa 73, MIM#616544; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2024-12-02T17:50:38.045531+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33001157, 34720973; Phenotypes: Cone dystrophy 4, MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2024-12-02T17:29:35.327823+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38419071; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2024-12-02T17:25:34.987115+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2024-12-02T17:22:13.374569+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: L2HGDH: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-02T17:21:57.799473+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nOnset typically in infancy or early childhood, however, reports of milder, adult onset cases have been reported. Patients may present with a wide variety of clinical manifestations.; to: Well established gene-disease association.\r\n\r\nOnset typically in infancy or early childhood, however, reports of milder, adult onset cases have been reported. Patients may present with a wide variety of clinical manifestations.",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-02T17:21:45.702243+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: L2HGDH: Rating: ; Mode of pathogenicity: None; Publications: 39262645, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: None",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-02T16:45:22.955079+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35711818; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-12-02T16:39:08.501369+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-12-02T16:34:33.861351+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34164576; Phenotypes: Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-12-02T16:26:53.537043+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GPR143: Rating: AMBER; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: Nystagmus 6, congenital, X-linked, MIM#300814, Ocular albinism, type I, Nettleship-Falls type, MIM#300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2024-12-02T16:08:21.699902+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26151409, 21131976, 30957429, 32042905; Phenotypes: Leukodystrophy, hypomyelinating, 11 MIM#616494, Treacher Collins syndrome 3 MIM#248390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:56:42.651596+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968, 31724321, 38423277, 39092477, 28129423, 33558817; Phenotypes: Peroxisome biogenesis disorder 14B MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:31:13.912589+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10862081, 21031596, 30640048; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:24:57.597155+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25129144, 37528877; Phenotypes: Severe congenital neutropenia 6, MIM# 616022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:24:07.041210+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391, 37762751, 38650033, 37692026, 37845138; Phenotypes: Nephrotic syndrome, type 12 MIM#616892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:23:44.189775+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37659026, 26348019, 12054167, 12579474; Phenotypes: autosomal dominant osteopetrosis 1 MONDO:0011877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:16:02.300047+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Early onset inflammatory bowel disease 28 (MIM# 613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:10:07.698889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-12-02T15:07:51.383597+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113, 23354436, 1577426, 23188109, 23559409; Phenotypes: Nephronophthisis 4 MONDO:0011752, Nephronophthisis 4 MIM#606966, Senior-Loken syndrome 4 MIM#606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:54:42.695670+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748, 18614015, 30642748, 29531337, 27623250, 28639102, 31967322, 32020600, 22019594, 25613900, 26741492, 35664867; Phenotypes: Leigh syndrome MONDO:0009723, Mitochondrial complex I deficiency, nuclear type 17 MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:46:28.023729+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: A condition that typically only affects males. Variants associated with osteopetrosis are primarily located in exon 10. Reported individuals also presented with mild skin features consistent with IP.\r\n\r\nPMID: 20499091 - 6yr boy with multiple phenotypes including mild osteopetrosis.\r\n\r\nPMID: 11242109 - 2 unrelated males with osteopetrosis as a presenting phenotype and X420W mutation. In vitro functional assay showed that this variant does not completely abolish IKBKG activity/protein however impairs the function.; to: A condition that typically only affects males. Variants associated with osteopetrosis are primarily located in exon 10. Reported individuals also presented with mild skin features consistent with IP.\r\n\r\nPMID: 20499091 - 6yr boy with multiple phenotypes including mild osteopetrosis.\r\n\r\nPMID: 11242109 - 2 unrelated males with osteopetrosis as a presenting phenotype and X420W mutation was identified. In vitro functional assay showed that this variant does not completely abolish IKBKG activity/protein however impairs the function.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:46:04.022374+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301645, 20499091, 11242109; Phenotypes: IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162, incontinentia pigmenti MONDO:0010631; 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": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:37:56.953471+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301451; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, Hunter syndrome, MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:37:24.101976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226, 14518829, 18392742, 11668611; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:29:44.213526+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201, 8640223, 27017278, 26938784, 15725586, 30232666, 37176116, 32805447, 31541013; Phenotypes: Myopathy, centronuclear, X-linked MIM#310400; 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": "MTM1",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:23:40.868808+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301328; Phenotypes: Lesch-Nyhan syndrome (MIM#300322); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:21:22.076585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2154",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PPP5C was added\ngene: PPP5C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP5C were set to 35361529; 25363768; 33057194\nPhenotypes for gene: PPP5C were set to Neurodevelopmental disorder, MONDO:0700092, PPP5C-related\nReview for gene: PPP5C was set to AMBER\nAdded comment: PMID: 35361529 - reported a de novo missense in a proband with microcephaly, developmental delay and epilepsy. However, after personal communication with the undiagnosed disease network this proband has since been found to have a different diagnosis with a nonsense and a missense in VARS1 identified, so unclear if the PPP5C variant is contributing to their phenotype.\r\n\r\n3 more probands with de novo missense variants have been published in large autism or developmental disorder cohort with limited information (PMIDs: 25363768, 33057194)\r\n\r\nAn internal VCGS proband with intellectual disability and failure to thrive was also found to have a de novo missense variant in this gene. \nSources: Literature",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-02T14:19:54.321182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.3",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PPP5C was added\ngene: PPP5C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPP5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP5C were set to 35361529; 25363768; 33057194\nPhenotypes for gene: PPP5C were set to Neurodevelopmental disorder, MONDO:0700092, PPP5C-related\nReview for gene: PPP5C was set to AMBER\nAdded comment: PMID: 35361529 - reported a de novo missense in a proband with microcephaly, developmental delay and epilepsy. However, after personal communication with the undiagnosed disease network this proband has since been found to have a different diagnosis with a nonsense and a missense in VARS1 identified, so unclear if the PPP5C variant is contributing to their phenotype.\r\n\r\n3 more probands with de novo missense variants have been published in large autism or developmental disorder cohort with limited information (PMIDs: 25363768, 33057194)\r\n\r\nAn internal VCGS proband with intellectual disability and failure to thrive was also found to have a de novo missense variant in this gene. \nSources: Literature",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-02T13:36:07.395696+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27369646, 33856753, 35186393; Phenotypes: osteopathia striata with cranial sclerosis MONDO:0010310; 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": "AMER1",
"entity_type": "gene"
},
{
"created": "2024-12-02T12:59:41.848022+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-02T12:55:30.130811+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.116",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype. \r\n\r\nCOL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.; to: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL4A2 have been reported in individuals with a cerebral vascular phenotype. \r\n\r\nCOL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-12-02T12:55:20.094463+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.116",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: 22209247 - COL1A1 form heterotrimers with COL2A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype. \r\n\r\nCOL2A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.; to: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype. \r\n\r\nCOL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-12-02T12:36:27.966872+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PKD1 as Green List (high evidence)",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-12-02T12:36:27.957923+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-12-02T12:34:54.338694+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PKD1 as Amber List (moderate evidence)",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-12-02T12:34:54.323098+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:57:29.328551+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:57:29.308065+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:55:47.499386+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PCNT as Green List (high evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:55:47.484012+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:50:16.946409+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PCNT were set to 15368497",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:43:38.754853+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYH11 as ready",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:43:38.742272+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Red List (Low Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:43:34.193608+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MYH11 were set to 16444274; 29263223",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:42:44.567619+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYH11 as Red List (low evidence)",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:42:44.546416+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Red List (Low Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:42:24.854514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MRVI1 as ready",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:42:24.833640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrvi1 has been classified as Red List (Low Evidence).",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:38:49.795110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MRVI1 were changed from moyamoya syndrome to Moyamoya disease MONDO:0016820",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:38:25.499575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: MRVI1: Changed phenotypes: Moyamoya disease MONDO:0016820",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:37:56.924873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MRVI1 was added\ngene: MRVI1 was added to Mendeliome. Sources: NHS GMS\nnew gene name tags were added to gene: MRVI1.\nMode of inheritance for gene: MRVI1 was set to Unknown\nPublications for gene: MRVI1 were set to 30001348\nPhenotypes for gene: MRVI1 were set to moyamoya syndrome\nReview for gene: MRVI1 was set to RED\nAdded comment: A single report of a variant as a possible modifier of NF1-related Moyamoya disease. The SNP rs35857561 segregates co-occurring with NF1 in 2 families and Moyamoya disease. rs35857561 is a common SNP and IRAG1 (new gene name) hasn't been reported in association with Mendelian disease. \nSources: NHS GMS",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:30:53.770986+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MRVI1 as ready",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:30:53.755788+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrvi1 has been classified as Red List (Low Evidence).",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:30:32.911759+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MRVI1 as Red List (low evidence)",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:30:32.900608+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mrvi1 has been classified as Red List (Low Evidence).",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:07:19.673197+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLVCR2 as Green List (high evidence)",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:07:19.663781+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flvcr2 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2024-12-02T09:06:29.728018+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38693257, 32333401, 20206334; Phenotypes: Proliferative vasculopathy and hydranencephaly/hydrocephaly MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:08:47.881480+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:08:47.868666+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Red List (Low Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:08:45.918412+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CEP152 as Red List (low evidence)",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:08:45.906451+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Red List (Low Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:07:57.577053+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATR as Red List (low evidence)",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:07:57.561781+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atr has been classified as Red List (Low Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:03:45.236740+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:03:45.222646+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:03:36.039754+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NF1 as Green List (high evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:03:36.028333+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-30T17:03:20.942235+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39367156, 39380389, 20301288; Phenotypes: Neurofibromatosis type 1 MONDO:0018975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:44:43.731590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHDDS were set to 27343064; 29100083; 21295283; 34382076",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:43:57.889849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHDDS: Added comment: Bi-allelic variants: ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.; Changed publications: 27343064, 29100083, 21295283, 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:42:58.510061+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 to Congenital disorder of glycosylation, type 1bb, MIM# 613861",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2024-11-29T15:42:35.682796+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHDDS were set to ",
"entity_name": "DHDDS",
"entity_type": "gene"
}
]
}