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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=993",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=991",
"results": [
{
"created": "2022-02-15T17:49:19.065467+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3A as ready",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:49:19.045449+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.191",
"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": "2022-02-15T17:49:14.028908+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.191",
"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": "2022-02-15T17:48:45.616068+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3A as Green List (high evidence)",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:48:45.601951+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.190",
"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": "2022-02-15T17:47:47.617399+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3487",
"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": "2022-02-15T17:47:38.611268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3486",
"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 to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; skeletal anomalies",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:46:54.506899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3A as Green List (high evidence)",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:46:54.494910+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3485",
"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": "2022-02-15T17:13:12.245223+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.153",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827\nPhenotypes for gene: SEMA3A were set to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature\nReview for gene: SEMA3A was set to GREEN\nAdded comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). More severe phenotype with biallelic SEMA3A variants reported including postnatal short stature and congenital heart defects in 3/3 published, unrelated individuals.\r\n\r\nPMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.\r\n\r\nPMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)\r\n\r\nPMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart\r\ndefect and camptodactyly \nSources: Literature",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:13:03.001646+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.189",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827\nPhenotypes for gene: SEMA3A were set to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature\nReview for gene: SEMA3A was set to GREEN\nAdded comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). More severe phenotype with biallelic SEMA3A variants including postnatal short stature and congenital heart defects in 3/3 published, unrelated individuals.\r\n\r\nPMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.\r\n\r\nPMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)\r\n\r\nPMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart\r\ndefect and camptodactyly \nSources: Literature",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T17:12:57.918850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3484",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827\nPhenotypes for gene: SEMA3A were set to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease\nReview for gene: SEMA3A was set to GREEN\nAdded comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). Anomalies such as unilateral renal aplasia which can be detected antenatally reported with Kallman syndrome but not published with heterozygous SEMA3A variants.\r\n\r\nMore severe phenotype with biallelic SEMA3A variants reported with features detectable antenatally.\r\n\r\nPMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.\r\n\r\nPMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)\r\n\r\nPMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart\r\ndefect and camptodactyly \nSources: Literature",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:51:50.865704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21, MIM# 615294 to Ciliary dyskinesia, primary, 21, MIM# 615294; Male infertility",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:51:32.938814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DRC1 were set to 31960620",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:50:39.211691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DRC1: Added comment: PMID 34169321: two individuals reported with homozygous variants and morphological abnormalities of sperm/male infertility.; Changed publications: 31960620, 34169321; Changed phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294, Male infertility",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:45:23.495040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO2 as ready",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:45:23.481889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo2 has been classified as Green List (High Evidence).",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:45:17.589362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO2 as Green List (high evidence)",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:45:17.578365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo2 has been classified as Green List (High Evidence).",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:44:45.221015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXB6 were set to 22371315",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:44:22.595276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXB6 as Red List (low evidence)",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:44:22.580842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb6 has been classified as Red List (Low Evidence).",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:43:47.311531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXB6 as ready",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:43:47.301773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb6 has been classified as Red List (Low Evidence).",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:43:42.074914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXB6 as Red List (low evidence)",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:43:42.054737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb6 has been classified as Red List (Low Evidence).",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:42:19.918367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ7 as ready",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:42:19.909040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Green List (High Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:42:13.865893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ7 as Green List (high evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:42:13.854904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Green List (High Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:41:43.627311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDX2 as ready",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:41:43.618029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:41:37.094852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDX2 as Amber List (moderate evidence)",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:41:37.081526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:40:44.232250+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLK2 as ready",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:40:44.221402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Green List (High Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:40:37.067715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLK2 as Green List (high evidence)",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:40:37.055241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Green List (High Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:40:06.084259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:40:06.066297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:39:44.945438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAT3 as Green List (high evidence)",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:39:44.930722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:39:31.797443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome - MIM#147060, Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:52.401839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU12 as ready",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:52.374566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu12 has been classified as Green List (High Evidence).",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:46.903089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU12 as Green List (high evidence)",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:46.893114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu12 has been classified as Green List (High Evidence).",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:09.480760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PJA1 as ready",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:09.471381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:03.545704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PJA1 as Amber List (moderate evidence)",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:38:03.504198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pja1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:37:34.359774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHEX as ready",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:37:34.345358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:37:27.825434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHEX as Green List (high evidence)",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:37:27.813250+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:58.520790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP1 as ready",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:58.507397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:52.991228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Green List (high evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:52.980045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:24.834680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFNA4 as ready",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:24.823698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:18.160223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFNA4 as Amber List (moderate evidence)",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:36:18.149754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:35:38.448466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHH as ready",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:35:38.437963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhh has been classified as Red List (Low Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:35:35.082641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 46XY sex reversal 7 to 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:35:21.400665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHH were set to ",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:34:47.526967+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEPDC5 as ready",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:34:47.515490+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: depdc5 has been classified as Red List (Low Evidence).",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:34:43.892319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEPDC5 were changed from FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI to Epilepsy, familial focal, with variable foci 1 MIM#604364",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:34:29.837902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DEPDC5 were set to ",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:34:17.649671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:33:40.087543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDHD2 as ready",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:33:40.075583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddhd2 has been classified as Red List (Low Evidence).",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:33:36.227273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD2 were changed from COMPLEX HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:33:22.876114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDHD2 were set to ",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:32:41.916503+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDHD1 as ready",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:32:41.905193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddhd1 has been classified as Red List (Low Evidence).",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:32:37.846019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:32:24.580213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDHD1 were set to ",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2022-02-15T14:19:21.817237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3464",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ROBO2 was added\ngene: ROBO2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960\nPhenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2 - MIM#610878; CAKUT\nReview for gene: ROBO2 was set to GREEN\nAdded comment: Known association with familial vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. \nSources: Literature",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:53:30.165001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10973",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: HOXB6: Rating: RED; Mode of pathogenicity: None; Publications: 17003840, 22371315; Phenotypes: Hypospadias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:52:51.890933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3464",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HOXB6 was added\ngene: HOXB6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HOXB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXB6 were set to 17003840; 22371315\nPhenotypes for gene: HOXB6 were set to Hypospadias\nReview for gene: HOXB6 was set to RED\nAdded comment: PMID 17003840 Chen et al 2007 report 2 babies with hypospadias and heterozygous HOXB6 variants. Cohort of 90 unrelated Chinese patients with hypospadias and 380 controls.\r\n\r\nx1 patient - heterozygous, maternally inherited HOXB6 c.124C>A p.P42T in a child with scrotal, micropenis, bifid scrotum, cryptorchidism. Baby also has maternally inherited SRD5A2 and de novo MID1 variant. The HOXB6 variant is absent from gnomad v2, v3, not previously reported in ClinVar, minor GS change (38), moderately conserved (change in non-placental mammals), not in a region of missense constraint.\r\n\r\nx1 patient - penile hypospadias, heterozygous HOXB6 c.367T>C p.C123R. No segregation information. 5 hets (East Asian, gnomad v2), 2 hets (East Asian, gnomad v3). GS 180, conserved in mammals (changed in birds), not in a region of missense constraint, not previously reported in ClinVar, predicted to escape NMD.\r\n\r\nx2 patients with hypospadias from a single study, variants of uncertain significance. \nSources: Literature",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:45:05.976377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:45:05.964199+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Red List (Low Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:45:01.241497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDC were set to ",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:44:24.017410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDB2 as ready",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:44:24.005581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Red List (Low Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:44:20.459966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB2 were changed from XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE to Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:44:08.531410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDB2 were set to ",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:42:55.308325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUZ as ready",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:42:55.296706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Red List (Low Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:42:51.789863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUZ were set to ",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:42:39.900779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:41:57.269374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUZ as ready",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:41:57.257339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Red List (Low Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:41:47.072319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUZ as Red List (low evidence)",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:41:47.060067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Red List (Low Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:41:04.723350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-02-15T12:41:04.712962+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbt has been classified as Red List (Low Evidence).",
"entity_name": "DBT",
"entity_type": "gene"
}
]
}