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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=639",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=637",
"results": [
{
"created": "2023-02-08T17:18:16.864999+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F8 as Amber List (moderate evidence)",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:18:16.849473+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:18:03.647191+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nVariable severity.\r\n\r\nTreatment: recombinant factor VIII. Gene therapy trial.\r\n\r\nNon-genetic confirmatory testing: factor VIII levels.\r\n\r\nNote: excluded from other screening tests due to concerns regarding ability to detect the intron 22 inversion (Inv22) mutation of F8 which causes about 45% of severe HA cases. For review.; to: Well established gene-disease association.\r\n\r\nVariable severity.\r\n\r\nTreatment: recombinant factor VIII. Gene therapy trial.\r\n\r\nNon-genetic confirmatory testing: factor VIII levels.\r\n\r\nNote: excluded from other screening tests due to concerns regarding ability to detect the intron 22 inversion (Inv22) mutation of F8 which causes about 45% of severe HA cases. Intron 1 inversion also common.\r\n\r\nExcluded for now until we can confirm we can detect inversion.",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:17:31.332788+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: F8: Changed rating: AMBER",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2023-02-08T06:59:05.556859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM3 were changed from Neurodevelopmental disorder, MONDO:0700092, TRPM3-related to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2023-02-08T06:58:30.724737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM3: Changed phenotypes: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2023-02-08T06:58:16.210314+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM3 were changed from Neurodevelopmental disorder, MONDO:0700092, TRPM3-related to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2023-02-08T06:57:38.900138+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM3: Changed phenotypes: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2023-02-08T06:57:19.142438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM3 were changed from Neurodevelopmental disorder, MONDO:0700092, TRPM3-related to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2023-02-08T06:56:54.745101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM3: Changed phenotypes: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2023-02-07T15:12:46.410351+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.164",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: STAT6 was added\ngene: STAT6 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT6 were set to PMID: 36216080\nPhenotypes for gene: STAT6 were set to early-onset multiorgan allergies\nMode of pathogenicity for gene: STAT6 was set to Other\nReview for gene: STAT6 was set to AMBER\nAdded comment: STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with\r\n3 affected members, extensive functional data to support mechanism of allergic disease. \nSources: Literature",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-02-03T17:09:00.455232+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CST6 as Green List (high evidence)",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2023-02-03T17:09:00.433136+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cst6 has been classified as Green List (High Evidence).",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2023-02-03T17:08:52.382772+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CST6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36371786; Phenotypes: dry skin, desquamation and abnormal keratosis without hypotrichosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:54:11.178253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.657",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EFCAB1 as Green List (high evidence)",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:54:11.170562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.657",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: efcab1 has been classified as Green List (High Evidence).",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:52:13.100423+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EFCAB1 as Green List (high evidence)",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:52:13.089456+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: efcab1 has been classified as Green List (High Evidence).",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:50:40.538999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.656",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EFCAB1 was added\ngene: EFCAB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFCAB1 were set to PMID: 36727596\nPhenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM #\nReview for gene: EFCAB1 was set to GREEN\nAdded comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. \nSources: Literature",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:50:38.383586+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EFCAB1 as Green List (high evidence)",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:50:38.376202+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: efcab1 has been classified as Green List (High Evidence).",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:50:31.433348+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EFCAB1 was added\ngene: EFCAB1 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFCAB1 were set to PMID: 36727596\nPhenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM #\nReview for gene: EFCAB1 was set to GREEN\nAdded comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. \nSources: Literature",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:49:59.394710+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EFCAB1 as Green List (high evidence)",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:49:59.382215+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: efcab1 has been classified as Green List (High Evidence).",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:49:31.495911+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EFCAB1 was added\ngene: EFCAB1 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFCAB1 were set to PMID: 36727596\nPhenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM #\nReview for gene: EFCAB1 was set to GREEN\nAdded comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. \nSources: Literature",
"entity_name": "EFCAB1",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:29:33.255911+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.271",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Green List (high evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:29:33.249004+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.271",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-02-03T16:28:58.673128+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.270",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARHGAP35 was added\ngene: ARHGAP35 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP35 were set to PMID: 36178483\nPhenotypes for gene: ARHGAP35 were set to Idiopathic hypogonadotropic hypogonadism, no OMIM #\nReview for gene: ARHGAP35 was set to GREEN\nAdded comment: 12 patients with idiopathic hypogonadotropic hypogonadism. Rare protein-truncating variants (n = 5) and missense variants (n = 7) found in the RhoGAP domain of ARHGAP35 gene. Zebrafish modeling using gnrh3:egfp phenotype assessment showed that mutant larvae with deficient arhgap35a (predominant ARHGAP35 paralog in zebrafish brain), displayed decreased GnRH3-GFP+ neuronal area, a readout for IHH. In vitro GAP activity studies showed that 1 rare missense variant (Arg1284Trp) had decreased GAP activity. \nSources: Literature",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:17:08.596969+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:16:14.668001+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: WDR5: Changed publications: 36408368",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:15:37.040448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.655",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:15:03.054653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.654",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: WDR5: Changed publications: 36408368",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:00:53.937564+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KBTBD13 as Amber List (moderate evidence)",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:00:53.918491+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kbtbd13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-02-03T11:00:08.280838+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KBTBD13 was added\ngene: KBTBD13 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KBTBD13 were set to 36335629\nPhenotypes for gene: KBTBD13 were set to Intrinsic cardiomyopathy MONDO:0000591\nReview for gene: KBTBD13 was set to AMBER\ngene: KBTBD13 was marked as current diagnostic\nAdded comment: In 3 families with the Nemaline myopathy type 6 (NEM6) Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C), a cardiac phenotype was found to co-segregate with the variant (LOD score 6.02). In total, 65 NEM6 patients were evaluated of whom 12% presented with LV dilatation, 29% with LVEF < 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Although some patients meet criteria for dilated cardiomyopathy, others have normal LV dimensions and meet criteria for arrhythmogenic cardiomyopathy, or display arrhythmia in the absence of cardiomyopathy. Mouse studies demonstrated that mice harbouring the Kbtbd13 p.R408C variant displayed mild diastolic dysfunction and Kbtbd13-deficient mice have systolic dysfunction. Currently, a cardiac phenotype has not been identified in individuals with any other pathogenic variants in KBTBD13. \nSources: Literature",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-02-03T10:53:14.327108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.654",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: None; Publications: 36335629; Phenotypes: Cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-02-03T10:50:51.657086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM#\t620236",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2023-02-03T10:50:08.952232+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM#\t620236",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:06:09.439106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNA1 as ready",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:06:09.428674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asna1 has been classified as Red List (Low Evidence).",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:05:59.349135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASNA1 as Red List (low evidence)",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:05:59.340165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asna1 has been classified as Red List (Low Evidence).",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:05:35.771298+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNA1 as ready",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:05:35.760135+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asna1 has been classified as Red List (Low Evidence).",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:05:31.377781+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASNA1 as Red List (low evidence)",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:05:31.367289+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asna1 has been classified as Red List (Low Evidence).",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:04:56.832358+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAGD as ready",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:04:56.820875+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragd has been classified as Green List (High Evidence).",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:04:52.462164+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAGD as Green List (high evidence)",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:04:52.453141+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragd has been classified as Green List (High Evidence).",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:04:41.715111+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAGD was added\ngene: RRAGD was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAGD were set to 34607910\nPhenotypes for gene: RRAGD were set to Inherited renal tubular disease, MONDO:0015962, RRAGD-related; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis\nReview for gene: RRAGD was set to GREEN\nAdded comment: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899. Six missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding The children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy. Most occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother. In vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR. \nSources: Literature",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:03:20.811390+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAGD as ready",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:03:20.804428+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragd has been classified as Green List (High Evidence).",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:03:16.511248+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAGD as Green List (high evidence)",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:03:16.504604+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragd has been classified as Green List (High Evidence).",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:02:55.640223+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAGD was added\ngene: RRAGD was added to Renal Tubulopathies and related disorders. Sources: Literature\nMode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAGD were set to 34607910\nPhenotypes for gene: RRAGD were set to Inherited renal tubular disease, MONDO:0015962, RRAGD-related; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis\nReview for gene: RRAGD was set to GREEN\nAdded comment: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899.\r\nSix missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding\r\nThe children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy. \r\nMost occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother. \r\nIn vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR. \nSources: Literature",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:02:31.840701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAGD as Green List (high evidence)",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:02:31.833268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragd has been classified as Green List (High Evidence).",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:02:12.237582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAGD as ready",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:02:12.223249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rragd has been removed from the panel.",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T17:01:51.989499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAGD were changed from Kidney tubulopathy; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis to Inherited renal tubular disease, MONDO:0015962, RRAGD-related; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:58:25.033051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMEL as ready",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:58:25.023718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmel has been classified as Red List (Low Evidence).",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:58:14.358487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMEL as Red List (low evidence)",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:58:14.347043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmel has been classified as Red List (Low Evidence).",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:57:51.243155+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMEL as ready",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:57:51.232001+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmel has been classified as Red List (Low Evidence).",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:57:33.476945+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMEL as Red List (low evidence)",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:57:33.467882+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmel has been classified as Red List (Low Evidence).",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:55:26.566488+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMEL as ready",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:55:26.556149+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmel has been classified as Red List (Low Evidence).",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:55:21.085375+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMEL as Red List (low evidence)",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T16:55:21.074577+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmel has been classified as Red List (Low Evidence).",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:21:19.481478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: ASNA1 was added\ngene: ASNA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASNA1 were set to 31461301; 16797549\nPhenotypes for gene: ASNA1 were set to Dilated cardiomyopathy, MONDO:0001644, ASNA1-related\nReview for gene: ASNA1 was set to RED\nAdded comment: Two siblings reported with biallelic variants - there were two variants on the paternal allele (c.867C>G p.(Cys289Trp) and c.913C>T p.(Gln305*)) and one variant on the maternal allele (c.488T>C p.(Val163Ala)). Unaffected sibling was heterozygous for maternal allele. Western blotting demonstrated reduced protein expression. Knockout of asna1 in zebrafish mode resulted in cardiac defects and early lethality. The Asna1 knockout mice displayed early embryonic lethality, consistent with a role of Asna1 in early embryonic development. \nSources: Literature",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:19:53.332646+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.154",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: ASNA1 was added\ngene: ASNA1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: ASNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASNA1 were set to 31461301; 16797549\nPhenotypes for gene: ASNA1 were set to Dilated cardiomyopathy, MONDO:0001644, ASNA1-related\nReview for gene: ASNA1 was set to RED\nAdded comment: Two siblings reported with biallelic variants - there were two variants on the paternal allele (c.867C>G p.(Cys289Trp) and c.913C>T p.(Gln305*)) and one variant on the maternal allele (c.488T>C p.(Val163Ala)). Unaffected sibling was heterozygous for maternal allele. Western blotting demonstrated reduced protein expression. Knockout of asna1 in zebrafish mode resulted in cardiac defects and early lethality. The Asna1 knockout mice displayed early embryonic lethality, consistent with a role of Asna1 in early embryonic development. \nSources: Literature",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:15:52.408446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899.\r\nFive missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding\r\nThe children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy. \r\nMost occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother. \r\nIn vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR. \nSources: Literature; to: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899.\r\nSix missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding\r\nThe children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy. \r\nMost occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother. \r\nIn vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR. \r\nSources: Literature",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:15:01.496483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: RRAGD was added\ngene: RRAGD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAGD were set to PMID: 34607910\nPhenotypes for gene: RRAGD were set to Kidney tubulopathy; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis\nReview for gene: RRAGD was set to GREEN\nAdded comment: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899.\r\nFive missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding\r\nThe children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy. \r\nMost occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother. \r\nIn vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR. \nSources: Literature",
"entity_name": "RRAGD",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:06:32.089371+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.8",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: PMEL: Changed phenotypes: Oculocutaneous albinism, PMEL-related MONDO:0018910",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:06:24.686992+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.23",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: PMEL: Changed phenotypes: Oculocutaneous albinism, PMEL-related MONDO:0018910",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:06:19.316421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PMEL was added\ngene: PMEL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PMEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMEL were set to 36166100; 36207673\nPhenotypes for gene: PMEL were set to Oculocutaneous albinism, PMEL-related MONDO:0018910\nReview for gene: PMEL was set to RED\ngene: PMEL was marked as current diagnostic\nAdded comment: A consanguineous family with oculocutaneous albinism and Hirschsprung disease was found to have a biallelic LoF variant in PMEL, which although NMD-predicted was found not to result in NMD by RT-PCR.\r\n\r\nSome evidence that polymorphisms in this gene influence pigmentation in cattle. \nSources: Literature",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:05:21.970827+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.23",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PMEL was added\ngene: PMEL was added to Hirschsprung disease. Sources: Literature\nMode of inheritance for gene: PMEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMEL were set to 36166100\nPhenotypes for gene: PMEL were set to Cculocutaneous albinism, PMEL-related MONDO:0018910\nReview for gene: PMEL was set to RED\ngene: PMEL was marked as current diagnostic\nAdded comment: A consanguineous family with oculocutaneous albinism and Hirschsprung disease was found to have a biallelic LoF variant in PMEL, which although NMD-predicted was found not to result in NMD by RT-PCR. \nSources: Literature",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:03:09.390719+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIR145 as ready",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:03:09.382940+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir145 has been classified as Red List (Low Evidence).",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:47.935031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SPTSSA as ready",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:47.916593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptssa has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:39.176252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SPTSSA as Amber List (moderate evidence)",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:39.171467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Three individuals but only two variants with different inheritance. Amber despite functional data.",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:39.144773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.649",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptssa has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:38.299452+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.8",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PMEL was added\ngene: PMEL was added to Ocular and Oculocutaneous Albinism. Sources: Literature\nMode of inheritance for gene: PMEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMEL were set to 36166100; 36207673\nPhenotypes for gene: PMEL were set to Cculocutaneous albinism, PMEL-related MONDO:0018910\nReview for gene: PMEL was set to RED\ngene: PMEL was marked as current diagnostic\nAdded comment: A consanguineous family with oculocutaneous albinism and Hirschsprung disease was found to have a biallelic LoF variant in PMEL, which although NMD-predicted was found not to result in NMD by RT-PCR.\r\n\r\nSome evidence that polymorphisms in this gene influence pigmentation in cattle. \nSources: Literature",
"entity_name": "PMEL",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:29.206652+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR145 as Red List (low evidence)",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:02:29.191835+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir145 has been classified as Red List (Low Evidence).",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:01:52.363320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.648",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SPTSSA was added\ngene: SPTSSA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPTSSA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTSSA were set to 36718090\nPhenotypes for gene: SPTSSA were set to complex hereditary spastic paraplegia, MONDO:0015150\nReview for gene: SPTSSA was set to AMBER\nAdded comment: Three unrelated individuals with common neurological features of developmental delay, progressive motor impairment, progressive lower extremity spasticity, and epileptiform activity or seizures. Other additional features varied.\r\n\r\nTwo of the individuals had the same de-novo missense, Thr51Ile, while the third was homozygous for a late truncating variant, Gln58AlafsTer10. The patient with the hom variant was described as less severe.\r\n\r\nFunctional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in flies, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA.\r\n\r\nThe de-novo missense were shown to impact regulation more than the hom truncation, while the truncated region was shown to previously to be important for ORMDL regulation.\r\n\r\nMice with a hom KO of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration. \nSources: Literature",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:01:51.977298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIR145 as ready",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:01:51.965646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir145 has been classified as Red List (Low Evidence).",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:01:20.338999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR145 as Red List (low evidence)",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T15:01:20.331097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir145 has been classified as Red List (Low Evidence).",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:58:50.387090+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TPCN2 as ready",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:58:50.376717+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tpcn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:58:43.991683+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TPCN2 as Amber List (moderate evidence)",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:58:43.980727+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tpcn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TPCN2",
"entity_type": "gene"
}
]
}