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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=992",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=990",
"results": [
{
"created": "2022-02-15T18:27:02.413407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGDS as ready",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:27:02.402237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgds has been classified as Green List (High Evidence).",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:26:48.356492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGDS were changed from CATEL-MANZKE SYNDROME to Catel-Manzke syndrome, MIM# 616145",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:26:27.002249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGDS were set to ",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:26:13.795618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome, MIM# 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:25:10.014565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB2 as ready",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:25:09.994099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:25:06.560762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4 to Loeys-Dietz syndrome 4, MIM# 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:24:54.498628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:24:42.823607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:23:18.627637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB3 as ready",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:23:18.617903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:23:15.152494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 5, MIM# 615582",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:23:03.908198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:22:50.957661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:20:45.489511+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC6 as ready",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:20:45.453156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc6 has been classified as Green List (High Evidence).",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:20:41.417501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC6 were changed from to Beaulieu-Boycott-Innes syndrome, MIM# 613680",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:20:09.889639+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC6 were set to ",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:19:43.597044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THOC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:19:10.583755+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:18:22.016048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC6 as ready",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:18:22.006361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc6 has been classified as Green List (High Evidence).",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:18:14.396974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC6 were changed from to Beaulieu-Boycott-Innes syndrome, MIM# 613680",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:17:54.076835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC6 were set to ",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:17:32.555935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THOC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:17:14.634375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:16:53.168358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC6 as ready",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:16:53.157848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc6 has been classified as Green List (High Evidence).",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:16:49.033469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC6 were changed from Beaulieu-Boycott-Innes syndrome to Beaulieu-Boycott-Innes syndrome, MIM# 613680",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:16:35.934482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC6 were set to ",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:16:05.658146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:15:12.513448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3510",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBC1D1 was added\ngene: TBC1D1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBC1D1 were set to 26572137\nPhenotypes for gene: TBC1D1 were set to CAKUT\nReview for gene: TBC1D1 was set to GREEN\nAdded comment: No new publications since last PanelApp review included below\r\n\r\n---\r\n1 heterozygous de novo frameshift variant in TBC1D1 in 1 CAKUT.\r\n3 further CAKUT cases with three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis. \nSources: Literature",
"entity_name": "TBC1D1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:13:33.041928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THRA: Changed publications: 22168587, 22494134, 25670821",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:13:14.472404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRA as ready",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:13:14.463118+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thra has been classified as Green List (High Evidence).",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:13:10.812500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THRA were changed from HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:12:59.032530+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THRA were set to ",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:12:33.639772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3508",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SRGAP1 was added\ngene: SRGAP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRGAP1 were set to 26026792\nPhenotypes for gene: SRGAP1 were set to congenital anomalies of the kidney and urinary tract\nReview for gene: SRGAP1 was set to AMBER\nAdded comment: PMID 26026792 Hwang et al report 2 unrelated families with heterozygous SRGAP1 variants.\r\n- Family 1 - proband with prenatally diagnosed multicystic dysplastic kidney, affected mother with right duplex kidney\r\n- Family 2 - proband with horseshoe kidney with a multicystic dysplastic right upper pole. Variant paternally inherited, father not available for renal ultrasound\r\n\r\nSupportive mouse models \nSources: Literature",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:12:22.954172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THRA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:11:40.744494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:09:59.461527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMCO1 as ready",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:09:59.449321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmco1 has been classified as Green List (High Evidence).",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:09:55.784352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMCO1 were changed from CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:09:43.279753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMCO1 were set to ",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:09:29.302402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported. Although some have the same recurrent founder variants, sufficient number of families from different ethnicities and with different variants reported for Green rating.; to: Multiple families reported. Although some have the same recurrent founder variants, sufficient number of families from different ethnicities and with different variants reported for Green rating.\r\n\r\nSkeletal abnormalities are pertinent to this panel.",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:09:08.199019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20018682, 23320496, 24194475, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:06:27.885952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM3 as ready",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:06:27.873797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm3 has been classified as Green List (High Evidence).",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:06:23.692150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM3 were changed from Congenital fiber-type disproportion myopathy 255310 to Myopathy, congenital, with fiber-type disproportion, MIM# 255310",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:06:06.867539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:04:32.071064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:04:32.059490+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:04:28.492943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:04:15.203137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:04:03.021770+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33527515; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:03:02.679897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3502",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLIT2 was added\ngene: SLIT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLIT2 were set to 26026792; 15130495\nPhenotypes for gene: SLIT2 were set to CAKUT; vesicoureteric reflux\nReview for gene: SLIT2 was set to AMBER\nAdded comment: PMID 26026792 Hwang et al 2019 - identified three unrelated individuals with CAKUT and different heterozygous SLIT2 missense mutations. \r\n- 1 patient presented with multiple bilateral subcortical renal cysts \r\n- 1 patient presented with multicystic dysplastic kidneys \r\n- 1 patient had right renal agenesis\r\n\r\nAuthors provide supportive variant-specific mouse models.\r\n\r\nPMID: 34059960 Liu et al 2021 - 3 unrelated children from a Chinese Kidney Disease Database with vesicoureteric reflux had SLIT3 VUS identified\r\n\r\nPMID 19350278 Zu et al 2009 - x2 unrelated individuals with SLIT2 variants - not segregating with disease in either family \nSources: Literature",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:00:31.877875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK9 as ready",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:00:31.862734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:00:27.643115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK9 were changed from Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; NEK9-related lethal skeletal dysplasia, MONDO:0014870; Lethal congenital contracture syndrome 10, OMIM:617022; ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262 to Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; NEK9-related lethal skeletal dysplasia, MONDO:0014870; Lethal congenital contracture syndrome 10, OMIM:617022; Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:59:55.656755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Changed rating: AMBER; Changed phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Skeletal dysplasia",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:59:16.057507+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK8 as ready",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:59:16.047643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:59:12.239460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444 to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:58:51.219887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK8 as Green List (high evidence)",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:58:51.208346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:58:20.104777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEDD4L as ready",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:58:20.090176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nedd4l has been classified as Green List (High Evidence).",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:58:16.081683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEDD4L were set to ",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:58:04.589307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEDD4L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:57:54.460934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEDD4L as Green List (high evidence)",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:57:54.449828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nedd4l has been classified as Green List (High Evidence).",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:57:20.160869+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF2 as ready",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:57:20.150125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf2 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:57:14.536911+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF2 were changed from LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:57:01.815954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF2 were set to ",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:56:50.361049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFAF2 as Red List (low evidence)",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:56:50.349102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf2 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:56:38.949320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. ID is unlikely to be the presenting or main feature.; to: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. Clinical presentation is typically post-natal.",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:56:15.947901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF2: Changed rating: RED",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:55:28.325851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA10 as ready",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:55:28.315140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:55:24.402693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA10 were changed from LEIGH SYNDROME DUP to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:55:12.724223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA10 were set to ",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:54:59.441255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families, functional data, but phenotypic description only available for one, IUGR reported.; to: Two families, functional data, IUGR reported.",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:54:46.569520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families, functional data, but phenotypic description only available for one (DD/ID part of the phenotype).; to: Two families, functional data, but phenotypic description only available for one, IUGR reported.",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:53:35.188464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA15 as ready",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:53:35.177789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Red List (Low Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:53:31.407164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:53:19.006018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA15 were set to ",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:53:08.956615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:52:58.441633+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA15 as Red List (low evidence)",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:52:58.432598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Red List (Low Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:52:47.166744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:51:12.200357+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3A as ready",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:51:12.190561+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Green List (High Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:51:09.474499+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; skeletal anomalies",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:50:28.147504+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA3A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:49:57.446615+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3A as Green List (high evidence)",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:49:57.437821+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Green List (High Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
}
]
}