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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1039",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1037",
"results": [
{
"created": "2022-01-20T07:53:17.237012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, OMIM:\t617757; Joubert Syndrome with Cranio-facial and Skeletal Defects to Basal cell nevus syndrome, MIM# 109400",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:53:01.598665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:52:50.763216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:52:50.751530+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:52:36.265485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Added comment: Rib anomalies and cleft palate are a feature of the mono-allelic disorder.\r\n\r\nThe signs of the bi-alellic disorder are relatively subtle and unlikely to be detectable antenatally.; Changed rating: GREEN; Changed phenotypes: Basal cell nevus syndrome, MIM# 109400; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:50:19.511589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:50:19.496619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:50:01.893539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNE1 as Green List (high evidence)",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:50:01.878466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:45:34.652866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM6 as ready",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:45:34.642209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:45:30.277031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZSWIM6 were changed from ACROMELIC FRONTONASAL DYSOSTOSIS to Acromelic frontonasal dysostosis (MIM#603671)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:45:17.223908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZSWIM6 were set to ",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:44:32.737014+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZSWIM6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:44:19.629306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSWIM6 as Green List (high evidence)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:44:19.610292+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:43:38.565655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZSWIM6: Added comment: Cleft palate and polydactyly are a feature of the skeletal disorder.\r\n\r\nCongenital anomalies are not a prominent feature of the neurodevelopmental disorder associated with this gene.; Changed rating: GREEN; Changed phenotypes: Acromelic frontonasal dysostosis (MIM#603671); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:37:37.515520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF423 as ready",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:37:37.490848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:37:22.713835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ZNF423 was changed from to Other",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:58.803271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYND11 as ready",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:58.792639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd11 has been classified as Red List (Low Evidence).",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:54.591677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND11 were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 30, MIM# 616083",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:36.968577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMYND11 were set to ",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:25.453001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMYND11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:13.882473+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYND11 as Red List (low evidence)",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:35:13.873603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd11 has been classified as Red List (Low Evidence).",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:34:59.711147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: New case series of additional 16 individuals reported, including four individuals from the same family. Common phenotypic features: developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioral abnormalities, seizures, and hypotonia. There are subtle shared dysmorphic features, including prominent eyelashes and eyebrows, a depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip, and wide mouth. Novel features include brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay. Two ZMYND11 variants located in the final exon reported —p.(Gln586*) (likely escaping nonsense‐mediated decay) and p.(Cys574Arg)—are predicted to disrupt the MYND‐type zinc‐finger motif and likely interfere with binding to its interaction partners.; to: New case series of additional 16 individuals reported, including four individuals from the same family. Common phenotypic features: developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioral abnormalities, seizures, and hypotonia. There are subtle shared dysmorphic features, including prominent eyelashes and eyebrows, a depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip, and wide mouth. Novel features include brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay. Two ZMYND11 variants located in the final exon reported —p.(Gln586*) (likely escaping nonsense‐mediated decay) and p.(Cys574Arg)—are predicted to disrupt the MYND‐type zinc‐finger motif and likely interfere with binding to its interaction partners.\r\n\r\nPresentation is post-natal.",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:34:45.647731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZMYND11: Changed rating: RED",
"entity_name": "ZMYND11",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:33:21.307990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYND10 as ready",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:33:21.287833+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd10 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:33:06.857258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND10 were changed from PRIMARY CILIARY DYSKINESIA-22 to Ciliary dyskinesia, primary, 22, MIM#615444",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:32:32.444162+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMYND10 were set to ",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:32:19.488498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYND10 as Green List (high evidence)",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:32:19.478633+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd10 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:31:21.068413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 families reported.; to: More than 10 families reported. Situs inversus is a feature.",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:29:12.738553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAG as ready",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:29:12.728586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhag has been classified as Red List (Low Evidence).",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:29:08.029486+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YWHAG were changed from Early-Onset Epilepsy to Developmental and epileptic encephalopathy 56, (MIMI#617665)",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:28:51.456599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAG were set to ",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:28:38.017144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:28:17.329382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YWHAG as Red List (low evidence)",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:28:17.318300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhag has been classified as Red List (Low Evidence).",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:27:47.612308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia.\r\n\r\nPMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures\r\nPMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development.\r\nPMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures; to: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia.\r\n\r\nPMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures\r\nPMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development.\r\nPMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures\r\n\r\nOnset in first year of life.",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:27:32.897035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YWHAG: Changed rating: RED",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:26:18.526078+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YAP1 as ready",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:26:18.516025+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Green List (High Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:26:15.812608+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YAP1 were changed from COB1; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:26:05.036639+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YAP1 were set to 24462371",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:25:47.117131+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YAP1 as Green List (high evidence)",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:25:47.106693+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Green List (High Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:25:37.634029+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462371, 27267789, 28801591; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:24:46.280052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:24:25.773010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YAP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:24:03.655763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YAP1 as ready",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:24:03.645724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Green List (High Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:23:54.344564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YAP1 were changed from to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:23:34.662388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YAP1 were set to ",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:23:11.411102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:22:51.744799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462371, 27267789, 28801591; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:21:57.657198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YAP1 as ready",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:21:57.639622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Green List (High Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:21:53.090376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YAP1 were changed from COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:21:21.634926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YAP1 were set to ",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:21:09.164516+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:20:58.609649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YAP1 as Green List (high evidence)",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:20:58.598842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Green List (High Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:19:16.330438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XYLT2 as ready",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:19:16.319781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:19:12.182994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XYLT2 were changed from SPONDYLOOCULAR SYNDROME to Spondyloocular syndrome MIM# 605822",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:18:58.784208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XYLT2 were set to ",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:18:46.300654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XYLT2 as Green List (high evidence)",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:18:46.289260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-20T07:18:28.578037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cataracts are a key feature of this condition. \nSources: Expert list; to: Congenital heart defects.\r\nSources: Expert list",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:54:13.432619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR81 as ready",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:54:13.420818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr81 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:53:25.062124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR73 as ready",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:53:25.051250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:53:17.595137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1, MIM#251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:52:57.900601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR73 were set to ",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:52:06.879389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:51:47.248484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1 MIM#251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:50:19.551097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR73 as ready",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:50:19.532889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:50:16.470266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1, 251300; GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME to Galloway-Mowat syndrome 1, MIM#251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:50:03.831182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR73 were set to ",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:49:51.817934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR73 as Green List (high evidence)",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:49:51.804479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:49:40.980326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 1 MIM#251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:47:48.688457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP11 as ready",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:47:48.676486+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:47:44.708097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP11 were changed from Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, #MIM:619227",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:47:29.547732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WBP11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:47:18.287297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP11 as Green List (high evidence)",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:47:18.277374+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:46:41.658327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VRK1 as ready",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:46:41.647870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Green List (High Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:46:34.887975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia type 1A MIM#607596",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:46:23.751268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VRK1 were set to ",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:45:51.419126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VRK1 as Green List (high evidence)",
"entity_name": "VRK1",
"entity_type": "gene"
}
]
}