{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=277","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=275","results":[{"created":"2025-04-02T17:20:46.832443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2415","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf44 as ready","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T17:20:46.826318+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf44 has been classified as Green List (High Evidence).","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T17:20:37.499949+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2415","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C19orf44 as Green List (high evidence)","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T17:20:37.493662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf44 has been classified as Green List (High Evidence).","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T17:19:40.243732+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1822","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBR1 as ready","entity_name":"LMBR1","entity_type":"gene"},{"created":"2025-04-02T17:19:40.235492+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbr1 has been classified as Green List (High Evidence).","entity_name":"LMBR1","entity_type":"gene"},{"created":"2025-04-02T17:19:37.240423+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1822","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMBR1 were changed from Acheiropody, 200500 (3) to Acheiropody, MIM #200500","entity_name":"LMBR1","entity_type":"gene"},{"created":"2025-04-02T17:19:27.330069+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1821","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LMBR1 were set to ","entity_name":"LMBR1","entity_type":"gene"},{"created":"2025-04-02T17:18:59.616832+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM29 as ready","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:18:59.610518+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm29 has been classified as Red List (Low Evidence).","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:18:32.987761+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TIMM29 was added\ngene: TIMM29 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: TIMM29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIMM29 were set to 40022150\nPhenotypes for gene: TIMM29 were set to Sengers syndrome MONDO:0008922, TIMM29-related\nReview for gene: TIMM29 was set to RED\nAdded comment: One large Arab family presenting with a range of clinical and biochemical phenotypes suggestive of Sengers Syndrome. Biallelic p.Trp172Arg was identified that segregated through the family - this variant is absent from gnomADv4.1 Knockdown drosophillia assay recapitulated the phenotype and pathology observed in the cohort of senger syndrome affected patients. \nSources: Literature","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:18:03.329506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM29 as ready","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:18:03.320316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm29 has been classified as Red List (Low Evidence).","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:16:36.097428+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2414","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TIMM29 as Red List (low evidence)","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:16:36.091423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm29 has been classified as Red List (Low Evidence).","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T17:16:10.977192+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1820","user_name":"Kate Scarff","item_type":"entity","text":"reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11090342, 10780921, 33863876; Phenotypes: Acheiropody, MIM #200500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMBR1","entity_type":"gene"},{"created":"2025-04-02T17:15:46.154969+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786 to Epidermolysis bullosa, junctional 3B, severe MIM #619786; Epidermolysis bullosa, junctional 3A, intermediate MIM #619785","entity_name":"LAMC2","entity_type":"gene"},{"created":"2025-04-02T17:15:33.110523+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1819","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMC2 were set to ","entity_name":"LAMC2","entity_type":"gene"},{"created":"2025-04-02T16:38:06.892922+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1818","user_name":"Kate Scarff","item_type":"entity","text":"reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32017015, 11810295, 24533970, 20301304; Phenotypes: Epidermolysis bullosa, junctional 3B, severe MIM #619786, Epidermolysis bullosa, junctional 3A, intermediate MIM #619785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMC2","entity_type":"gene"},{"created":"2025-04-02T15:16:41.509719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2413","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TIMM29 was added\ngene: TIMM29 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TIMM29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIMM29 were set to 40022150\nPhenotypes for gene: TIMM29 were set to Sengers syndrome MONDO:0008922, TIMM29-related\nReview for gene: TIMM29 was set to RED\nAdded comment: One large Arab family presenting with a range of clinical and biochemical phenotypes suggestive of Sengers Syndrome. \r\nBiallelic p.Trp172Arg was identified that segregated through the family - this variant is absent from gnomADv4.1 \r\nKnockdown drosophillia assay recapitulated the phenotype and pathology observed in the cohort of senger syndrome affected patients. \nSources: Literature","entity_name":"TIMM29","entity_type":"gene"},{"created":"2025-04-02T14:50:19.527863+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1818","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26350204, 36625203; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2025-04-02T14:30:52.669226+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2413","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: C19orf44: Changed phenotypes: Late onset retinal dystrophy, MONDO:0019118","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T14:30:45.706796+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.156","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: C19orf44 was added\ngene: C19orf44 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf44 were set to 40079362\nPhenotypes for gene: C19orf44 were set to Late onset retinal dystrophy, MONDO:0019118\nReview for gene: C19orf44 was set to GREEN\nAdded comment: 5 biallelic LoF variants were identified in 11 unrelated families of Jewish or Israeli ancestry. All affected individuals present with a form of retinal disorder including perifoveal chorioretinal atrophy and electroretinographic features of rod-cone degeneration. \r\nAll 5 variants were present in gnomAD v4.1 with varying AF (p.Ser325PhefsTer16 being the most common). \nSources: Literature","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T14:29:43.954893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2413","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: C19orf44 was added\ngene: C19orf44 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf44 were set to 40079362\nPhenotypes for gene: C19orf44 were set to Late onset retinal dystrophy; MONDO:0019118\nReview for gene: C19orf44 was set to GREEN\nAdded comment: 5 biallelic LoF variants were identified in 11 unrelated families of Jewish or Israeli ancestry. All affected individuals present with a form of retinal disorder including perifoveal chorioretinal atrophy and electroretinographic features of rod-cone degeneration. \r\nAll 5 variants were present in gnomAD v4.1 with varying AF (p.Ser325PhefsTer16 being the most common). \nSources: Literature","entity_name":"C19orf44","entity_type":"gene"},{"created":"2025-04-02T14:08:21.431196+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added Panel Infertility and Pregnancy Loss","entity_name":null,"entity_type":null},{"created":"2025-04-02T13:42:48.289684+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.156","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: IDH3G was added\ngene: IDH3G was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IDH3G were set to 40119724\nPhenotypes for gene: IDH3G were set to X-linked retinitis pigmentosa, MONDO:0019200\nReview for gene: IDH3G was set to GREEN\nAdded comment: PMID: 40119724\r\n5 unrelated male probands with retinal pigmentosa (RP) identifed with hemizygous variants in IDH3G and was shown to segregate with disease in some families. \nSources: Literature","entity_name":"IDH3G","entity_type":"gene"},{"created":"2025-04-02T13:42:43.986776+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2413","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: IDH3G was added\ngene: IDH3G was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IDH3G were set to 40119724\nPhenotypes for gene: IDH3G were set to X-linked retinitis pigmentosa, MONDO:0019200\nReview for gene: IDH3G was set to GREEN\nAdded comment: PMID: 40119724\r\n5 unrelated male probands with retinal pigmentosa (RP) identifed with hemizygous variants in IDH3G and was shown to segregate with disease in some families. \nSources: Literature","entity_name":"IDH3G","entity_type":"gene"},{"created":"2025-04-02T13:22:32.266892+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three individuals reported with coloboma and ptosis as features, pheno expansion. \nSources: Literature; to: Three individuals reported with coloboma and ptosis as features, pheno expansion. \r\nSources: Literature","entity_name":"MYH10","entity_type":"gene"},{"created":"2025-04-02T12:56:15.354173+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFRC were changed from Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia to TFRC-related combined immunodeficiency MONDO:0014760; Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:56:00.095467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2412","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFRC as Green List (high evidence)","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:56:00.085356+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfrc has been classified as Green List (High Evidence).","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:55:36.238025+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFRC were changed from Immunodeficiency 46, MIM#\t616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia to Immunodeficiency 46, MIM#\t616740; TFRC-related combined immunodeficiency MONDO:0014760","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:55:02.499435+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFRC were set to 26642240","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:54:38.109310+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFRC as Green List (high evidence)","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:54:38.103590+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfrc has been classified as Green List (High Evidence).","entity_name":"TFRC","entity_type":"gene"},{"created":"2025-04-02T12:49:03.500799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2411","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAX1BP3 as ready","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:49:03.492203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tax1bp3 has been classified as Amber List (Moderate Evidence).","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:48:55.260725+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2411","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAX1BP3 as Amber List (moderate evidence)","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:48:55.251953+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tax1bp3 has been classified as Amber List (Moderate Evidence).","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:48:39.618580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2410","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAX1BP3 was added\ngene: TAX1BP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TAX1BP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAX1BP3 were set to 39963794\nPhenotypes for gene: TAX1BP3 were set to Familial cardiomyopathy, MONDO:0005217, TAX1BP3-related\nReview for gene: TAX1BP3 was set to AMBER\nAdded comment: Biallelic variants (1 x del, 1 x missense) in TAX1BP3 cause a novel autosomal recessive form of arrhythmogenic cardiomyopathy. One family only, but 3 affected sibs had the bialleic variants which were absent in an unaffected sister. Carrier parents were normal. Experimental work on patient-derived induced pluripotent stem cell cardiac myocytes and a knockout mouse showed that show loss of TAX1BP3 causes calcium dysregulation in cardiomyocytes, a known mechanism for arrhythmia. AMBER until more case level data evolves. \nSources: Literature","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:48:15.858915+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAX1BP3 as ready","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:48:15.849363+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tax1bp3 has been classified as Amber List (Moderate Evidence).","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:48:12.069358+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAX1BP3 were changed from arrhythmogenic cardiomyopathy to Familial cardiomyopathy, MONDO:0005217, TAX1BP3-related; arrhythmogenic cardiomyopathy","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:43:02.931718+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAX1BP3 as Amber List (moderate evidence)","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:43:02.923202+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tax1bp3 has been classified as Amber List (Moderate Evidence).","entity_name":"TAX1BP3","entity_type":"gene"},{"created":"2025-04-02T12:40:26.907129+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFAP54 were set to PMID: 26224312; 36593121; 37725231","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:40:04.143793+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP54 as Green List (high evidence)","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:40:04.135027+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap54 has been classified as Green List (High Evidence).","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:39:30.798644+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP54: Added comment: PMID:39362668 reported four unrelated patients aged between 2 and 25 years old, three of whom were compound heterozygous and one homozygous for pathogenic variants in CFAP54. All reported chronic respiratory symptoms and all three patients for whom data was available had bronchiectasis. Two patients reported neonatal chest symptoms, one did not and data was missing for the other patient. No data were available on fertility status. In keeping with other C1d mutations they all had situs solitus and normal EM and HSVMA in those where data were available, but studies of in vitro ciliary transport performed in two subjects found that this was impaired in both.; Changed rating: GREEN; Changed publications: 36593121, 37725231, 39362668","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:38:42.883329+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2409","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFAP54 were changed from Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation to Ciliary dyskinesia, primary, 54, MIM:621125; Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:37:59.127543+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2408","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFAP54 were set to 26224312; 36593121","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:35:58.925589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2407","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP54 as Green List (high evidence)","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:35:58.916886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap54 has been classified as Green List (High Evidence).","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-04-02T12:33:48.492650+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH10 as ready","entity_name":"MYH10","entity_type":"gene"},{"created":"2025-04-02T12:33:48.483994+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh10 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH10","entity_type":"gene"},{"created":"2025-04-02T12:33:07.607107+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH10 as Amber List (moderate evidence)","entity_name":"MYH10","entity_type":"gene"},{"created":"2025-04-02T12:33:07.601431+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh10 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH10","entity_type":"gene"},{"created":"2025-04-02T12:32:48.110861+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH10 was added\ngene: MYH10 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH10 were set to 40044823\nPhenotypes for gene: MYH10 were set to Neurodevelopmental disorder, MONDO:0700092, MYH10-related\nReview for gene: MYH10 was set to AMBER\nAdded comment: Three individuals reported with coloboma and ptosis as features, pheno expansion. \nSources: Literature","entity_name":"MYH10","entity_type":"gene"},{"created":"2025-04-02T12:30:44.426042+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED16 as ready","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:30:44.407145+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med16 has been classified as Green List (High Evidence).","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:30:38.240666+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MED16 as Green List (high evidence)","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:30:38.226590+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med16 has been classified as Green List (High Evidence).","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:30:12.422492+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.435","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED16 was added\ngene: MED16 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED16 were set to 40081376\nPhenotypes for gene: MED16 were set to Neurodevelopmental disorder, MONDO:0700092, MED16-related\nReview for gene: MED16 was set to GREEN\nAdded comment: 18 families reported with DD/ID +/- multiple congenital anomalies including CHD (predominantly Tetralogy of Fallot). \nSources: Literature","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:29:16.191549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2406","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: EZR was added\ngene: EZR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EZR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EZR were set to 40137958\nPhenotypes for gene: EZR were set to Congenital enteropathy, MONDO:0009173\nReview for gene: EZR was set to RED\nAdded comment: Homozygous LoF variant c. 356dup (p. Glu120*) - present in gnomAD v4.1 (rare enough for AR condition)\r\nInfant from consanguineous parents with intractable diarrhea and failure to thrive.\r\nA supportive functional assay showing the variant is predicted to result in NMD was conducted.\r\nNo other reports of other variants in this gene to support this gene disease association as of yet. \nSources: Literature","entity_name":"EZR","entity_type":"gene"},{"created":"2025-04-02T12:27:37.214591+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED16 as ready","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:27:37.208252+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med16 has been classified as Green List (High Evidence).","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:27:33.489140+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MED16 as Green List (high evidence)","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:27:33.479928+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med16 has been classified as Green List (High Evidence).","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:27:24.177481+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED16 was added\ngene: MED16 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED16 were set to 40081376\nPhenotypes for gene: MED16 were set to Neurodevelopmental disorder, MONDO:0700092, MED16-related\nReview for gene: MED16 was set to GREEN\nAdded comment: 18 families reported with bi-allelic variants in this gene with DD/ID +/- multiple congenital anomalies, including cleft palate in multiple individuals. \nSources: Literature","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:26:25.664929+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MED16 were changed from complex neurodevelopmental disorder MONDO:0100038 to Neurodevelopmental disorder, MONDO:0700092, MED16-related","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:26:00.262886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MED16 were set to ","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:25:35.422382+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MED16: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081376; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MED16-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MED16","entity_type":"gene"},{"created":"2025-04-02T12:23:07.177421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2406","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CELF4 as ready","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:23:07.171529+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2406","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:23:00.780808+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2406","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CELF4 as Green List (high evidence)","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:23:00.775037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2406","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:22:44.302125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2405","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CELF4 was added\ngene: CELF4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CELF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF4 were set to 40108438\nPhenotypes for gene: CELF4 were set to Neurodevelopmental disorder, MONDO:0700092, CELF4-related\nReview for gene: CELF4 was set to GREEN\nAdded comment: 15 individuals with de novo missense variants clustering in the N-terminal reported, LoF is the likely mechanism. Most individuals presented with neurodevelopmental disorders including global developmental delay/intellectual disability (11/14), seizures (9/15) and overweight/obesity (10/14). Clinical features are similar to the reported celf4-mouse mutant phenotype. \nSources: Literature","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:20:08.749287+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CELF4 as ready","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:20:08.743600+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:20:04.117920+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CELF4 as Green List (high evidence)","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:20:04.108275+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:19:55.652417+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CELF4 was added\ngene: CELF4 was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: CELF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF4 were set to 40108438\nPhenotypes for gene: CELF4 were set to Neurodevelopmental disorder, MONDO:0700092, CELF4-related\nReview for gene: CELF4 was set to GREEN\nAdded comment: 15 individuals with de novo missense variants clustering in the N-terminal reported, LoF is the likely mechanism. Most individuals presented with neurodevelopmental disorders including global developmental delay/intellectual disability (11/14), seizures (9/15) and overweight/obesity (10/14). Clinical features are similar to the reported celf4-mouse mutant phenotype. \nSources: Literature","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:19:04.211680+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CELF4 as ready","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:19:04.202993+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:18:40.087043+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CELF4 as Green List (high evidence)","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:18:40.080677+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:18:10.428334+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CELF4 was added\ngene: CELF4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CELF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF4 were set to 40108438\nPhenotypes for gene: CELF4 were set to Neurodevelopmental disorder, MONDO:0700092, CELF4-related\nReview for gene: CELF4 was set to GREEN\nAdded comment: 15 individuals with de novo missense variants clustering in the N-terminal reported, LoF is the likely mechanism. Most individuals presented with neurodevelopmental disorders including global developmental delay/intellectual disability (11/14), seizures (9/15) and overweight/obesity (10/14). Clinical features are similar to the reported celf4-mouse mutant phenotype. \nSources: Literature","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:16:43.104541+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CELF4 as ready","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:16:43.096339+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:16:36.965245+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CELF4 as Green List (high evidence)","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:16:36.959181+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: celf4 has been classified as Green List (High Evidence).","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:16:14.041556+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CELF4 was added\ngene: CELF4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CELF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF4 were set to 40108438\nPhenotypes for gene: CELF4 were set to Neurodevelopmental disorder, MONDO:0700092, CELF4-related\nReview for gene: CELF4 was set to GREEN\nAdded comment: 15 individuals with de novo missense variants clustering in the N-terminal reported, LoF is the likely mechanism. Most individuals presented with neurodevelopmental disorders including global developmental delay/intellectual disability (11/14), seizures (9/15) and overweight/obesity (10/14). Clinical features are similar to the reported celf4-mouse mutant phenotype. \nSources: Literature","entity_name":"CELF4","entity_type":"gene"},{"created":"2025-04-02T12:11:53.120565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2404","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK1A1 as ready","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:11:53.114858+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2404","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1a1 has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:11:45.961638+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2404","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSNK1A1 as Amber List (moderate evidence)","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:11:45.952711+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2404","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1a1 has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:11:27.271091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2403","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSNK1A1 was added\ngene: CSNK1A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CSNK1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK1A1 were set to 40156289\nPhenotypes for gene: CSNK1A1 were set to Infantile spasms, MONDO:0018097, CSNK1A1-related\nReview for gene: CSNK1A1 was set to AMBER\nAdded comment: Two individuals with de novo variants and some supportive functional data. \nSources: Literature","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:09:57.251245+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK1A1 as ready","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:09:57.242075+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1a1 has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK1A1","entity_type":"gene"},{"created":"2025-04-02T12:09:51.167694+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSNK1A1 as Amber List (moderate evidence)","entity_name":"CSNK1A1","entity_type":"gene"}]}