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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1373",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1371",
"results": [
{
"created": "2021-03-26T20:30:45.477382+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:30:20.769638+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANO3 as Red List (low evidence)",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:30:20.759742+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano3 has been classified as Red List (Low Evidence).",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:29:57.116482+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANO3: Changed rating: RED",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:29:49.969123+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:28:30.205688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33388357; Phenotypes: Dystonia 24, MIM#615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:26:25.727831+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IPO8 as ready",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:26:25.716732+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ipo8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:26:21.463260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IPO8 as ready",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:26:21.451645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ipo8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:26:13.948209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IPO8 as Amber List (moderate evidence)",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:26:13.938646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ipo8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:25:42.149111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IPO8 was added\ngene: IPO8 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities\nReview for gene: IPO8 was set to AMBER\nAdded comment: 12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. \nSources: Expert Review",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:25:34.586115+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IPO8 were changed from to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:23:41.537759+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IPO8 as Amber List (moderate evidence)",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:23:41.528435+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ipo8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:22:28.227256+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MN1 were changed from Conductive and sensorineural hearing loss to Conductive and sensorineural hearing loss; CEBALID syndrome, MIM#\t618774",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:21:48.911800+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MN1 as ready",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:21:48.902064+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mn1 has been classified as Green List (High Evidence).",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:21:43.637242+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MN1 as Green List (high evidence)",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:21:43.623600+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mn1 has been classified as Green List (High Evidence).",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:20:49.431942+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MN1 were changed from Cleft palate to Cleft palate; CEBALID syndrome, MIM#\t618774",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:20:22.209602+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MN1 as ready",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:20:22.198950+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:20:07.205628+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MN1 as Amber List (moderate evidence)",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:20:07.197026+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:18:46.005739+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDB1 were set to ",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:18:24.561742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:18:19.587384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDB1: Added comment: 8 individuals with de novo missense variants and varying degrees of intellectual disability, hypotonia, and some malformations, brachydactyly and syndactyly. Functional evidence of abnormal DNA repair in patient lymphoblasts.; Changed publications: 33743206",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:17:31.607421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDB1 were set to ",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:16:22.604546+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:16:22.591163+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:16:18.066784+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from to Cardiomyopathy, dilated, 1E, MIM# 601154",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:15:45.197647+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to ",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:15:26.433506+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:14:56.771970+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671429, 15671429, 19808398, 21596231, 20458009, 22675453, 22766342, 22999724, 29871609, 29506689, 31514951, 31930659, 31520233, 17512504, 21824921, 30218094; Phenotypes: Cardiomyopathy, dilated, 1E, MIM# 601154; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:46:07.432331+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 30322850\r\n4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)\r\nOnly W271G and the fs demonstrated reduced NOTCh signaling\r\nMutant zebrafish were evaluated for degree of malformation\r\n\r\nAssociated with LVNC disputed by clingen\r\nNO association with DCM by clingen; to: PMID: 30322850\r\n4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)\r\nOnly W271G and the fs demonstrated reduced NOTCh signaling\r\nMutant zebrafish were evaluated for degree of malformation\r\n\r\nAssociation with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real\r\n\r\nNO association with DCM by clingen",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T16:44:53.806436+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MIB1: Changed publications: 30322850, 23314057",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T15:44:54.055214+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.18",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: IPO8 was added\ngene: IPO8 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review\nMode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal\nPenetrance for gene: IPO8 were set to Complete\nReview for gene: IPO8 was set to AMBER\nAdded comment: 12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. \nSources: Expert Review",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2021-03-26T10:31:43.366546+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.58",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: MN1 was added\ngene: MN1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MN1 were set to 31834374\nPhenotypes for gene: MN1 were set to Conductive and sensorineural hearing loss\nMode of pathogenicity for gene: MN1 was set to Other\nReview for gene: MN1 was set to GREEN\nAdded comment: MN1 is associated to CEBALID syndrome (MIM# 618774), and 16 out of 20 individuals with this condition reported by PMID 31834374, presented conductive or sensorineural hearing loss, accompanied by other features such as facial dysmorphism and ID. \nSources: Literature",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T10:26:02.123985+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.104",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: MN1 was added\ngene: MN1 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MN1 were set to 33351141; 31834374; 33351070\nPhenotypes for gene: MN1 were set to Cleft palate\nMode of pathogenicity for gene: MN1 was set to Other\nReview for gene: MN1 was set to AMBER\nAdded comment: MN1 is associated to CEBALID syndrome (MIM# 618774), and many individuals have been reported with a high-arched palate. So far, 2 individuals have been reported with cleft palate, one with a severe form of the condition, associated with a truncating variant at the C-terminal, which are known to result in gain of function (PMID 31834374). And more recently, a NMD variant, established by RT-PCR and Western Blot, has been identified in a family with cleft palate and conductive hearing loss, but no ID and no other dysmorphic features (PMID 33351070). PMID 33351141 mentions that LoF is likely associated with a milder phenotype despite the high MAF of some NMD in the population, as these are in low complexity region. \nSources: Literature",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:31:01.605493+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3548",
"user_name": "Sue White",
"item_type": "entity",
"text": "reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33743206; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:06:50.551642+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:06:50.539211+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Green List (High Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:06:42.883243+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:06:37.794944+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: FGFR2: Choanal atresia/stenosis is a feature of several FGFR2-related disorders. Disease associations are well established.",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:06:37.763462+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Apert syndrome 101200, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Craniosynostosis, nonspecific, Pfeiffer syndrome 101600, Craniofacial-skeletal-dermatologic dysplasia 101600, Beare-Stevenson cutis gyrata syndrome 123790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:02:43.312683+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:02:43.302742+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:02:37.783919+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:02:10.023337+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM20C were set to ",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:01:48.094528+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:01:19.253784+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:00:29.945479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T09:00:29.935802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:59:43.494478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:58:36.065359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM20C were set to ",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:58:17.010292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:57:51.595704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:51:49.521739+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:51:49.512849+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:51:47.499362+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM20C were changed from Raine syndrome\t259775 to Raine syndrome, MIM# 259775; MONDO:0009821",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:51:39.334972+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM20C were set to 25974638",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-26T08:51:24.079166+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:25:54.946484+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:25:54.936137+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:25:52.191523+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis, Guion-Almeida type\t610536 to Mandibulofacial dysostosis, Guion-Almeida type\tMIM#610536; MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:25:10.444827+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:23:26.099802+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNND1 as ready",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:23:26.089725+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Green List (High Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:23:23.806254+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND1 were changed from chonal atresia to Blepharocheilodontic syndrome 2, MIM# 617681; MONDO:0040503; chonal atresia",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:23:10.861350+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNND1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:22:58.551282+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, MIM# 617681, MONDO:0040503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:20:21.374051+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, choanal atresia is a key feature.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:20:06.244146+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:20:06.235343+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:20:04.066399+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from CHARGE syndrome, 214800 to CHARGE syndrome, MIM# 214800; MONDO:0008965",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:19:49.530200+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800, MONDO:0008965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:17:35.521496+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from deleted to public\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-25T21:15:15.264574+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to SEMA3E.\nAdded phenotypes CHARGE syndrome, 214800 for gene: SEMA3E",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:15.212143+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to SALL4.\nAdded phenotypes Duane-radial ray syndrome 607323 for gene: SALL4",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:15.157993+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to PTPN14.\nAdded phenotypes Choanal atresia and lymphedema, 613611 for gene: PTPN14",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:15.091177+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to USP9X.\nAdded phenotypes Mental retardation, X-linked 99, syndromic, female-restricted 300968 for gene: USP9X",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.990391+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to TXNL4A.\nAdded phenotypes Burn-McKeown syndrome\t608572 for gene: TXNL4A",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.935069+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to SPINT2.\nAdded phenotypes Diarrhea 3, secretory sodium, congenital, syndromic\t270420 for gene: SPINT2",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.881933+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to FOXE1.\nAdded phenotypes Bamforth-Lazarus syndrome\t241850 for gene: FOXE1\nPublications for gene FOXE1 were updated from 20453517; 24219130; 9697705 to 20453517; 24219130; 9697705",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.827896+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to FGFR3.\nAdded phenotypes Crouzon syndrome with acanthosis nigricans\t612247 for gene: FGFR3\nPublications for gene FGFR3 were updated from 11426459; 17935505; 20199409 to 20199409; 17935505; 11426459",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.765576+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to FGFR2.\nAdded phenotypes Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Craniosynostosis, nonspecific; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Beare-Stevenson cutis gyrata syndrome 123790 for gene: FGFR2",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.708684+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to FAM20C.\nAdded phenotypes Raine syndrome\t259775 for gene: FAM20C",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.650770+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to EFTUD2.\nAdded phenotypes Mandibulofacial dysostosis, Guion-Almeida type\t610536 for gene: EFTUD2",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.582232+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to CTNND1.\nAdded phenotypes chonal atresia for gene: CTNND1",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:15:14.525737+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Genomics England PanelApp was added to CHD7.\nAdded phenotypes CHARGE syndrome, 214800 for gene: CHD7",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:56.879508+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel deleted",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-25T21:12:04.138500+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA3E was added\ngene: SEMA3E was added to Choanal atresia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEMA3E were set to CHARGE syndrome, 214800",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:04.091475+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SALL4 was added\ngene: SALL4 was added to Choanal atresia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Other,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL4 were set to Duane-radial ray syndrome 607323",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:04.031026+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN14 was added\ngene: PTPN14 was added to Choanal atresia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red\nMode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN14 were set to 20826270\nPhenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema, 613611",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.983329+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Choanal atresia. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: USP9X were set to 26833328\nPhenotypes for gene: USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.937224+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TXNL4A was added\ngene: TXNL4A was added to Choanal atresia. Sources: Expert Review Green,Research\nMode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNL4A were set to 25434003\nPhenotypes for gene: TXNL4A were set to Burn-McKeown syndrome\t608572\nMode of pathogenicity for gene: TXNL4A was set to Other - please provide details in the comments",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.889211+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPINT2 was added\ngene: SPINT2 was added to Choanal atresia. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic\t270420",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.837267+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXE1 was added\ngene: FOXE1 was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOXE1 were set to 20453517; 24219130; 9697705\nPhenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome\t241850",
"entity_name": "FOXE1",
"entity_type": "gene"
}
]
}