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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1143",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1141",
"results": [
{
"created": "2021-11-08T11:40:31.720800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp4 has been classified as Green List (High Evidence).",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:40:22.509492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP4 were changed from to Cutis laxa, autosomal recessive, type IC, MIM# 613177",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:40:01.805879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LTBP4 were set to ",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:39:42.378459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LTBP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:39:23.705362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427, 19836010, 28684544; Phenotypes: Cutis laxa, autosomal recessive, type IC, MIM# 613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:38:51.800040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:33:54.176068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA3 as ready",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:33:54.153141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga3 has been classified as Green List (High Evidence).",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:33:50.058526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA3 were changed from INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:33:35.482333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA3 were set to ",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:33:21.760197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491, 23114595, 30466509; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:34.634386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP2 as ready",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:34.622230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:27.130742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFEMP2 as Green List (high evidence)",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:27.121453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:16.360521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP2 as ready",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:16.350732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:14:12.920810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFEMP2 was added\ngene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFEMP2 were set to 30140196; 23532871; 31548410; 19664000\nPhenotypes for gene: EFEMP2 were set to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437\nReview for gene: EFEMP2 was set to GREEN\nAdded comment: Associated with pulmonary hypoplasia, hypoplastic diaphragm and diffuse lung disease, fractures, arthrogryposis. Over 20 unrelated families reported in the literature. \nSources: Expert Review",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:13:34.417879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP2 were changed from to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:13:16.317577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFEMP2 were set to ",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:12:54.712113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFEMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:11:54.186581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30140196, 23532871, 31548410, 19664000; Phenotypes: Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:11:46.887983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:59:02.696265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1377",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: LAMC3 was added\ngene: LAMC3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMC3 were set to 33639934; 21572413; 34354730\nPhenotypes for gene: LAMC3 were set to Cortical malformations, occipital, MIM#614115\nReview for gene: LAMC3 was set to GREEN\nAdded comment: Biallelic LAMC3 variants cause occipital cortical malformation with 6 unrelated families reported. Childhood-onset seizures is the most common clinical manifestation, usually occurring around age 10. \nSources: Literature",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:55:31.505214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33639934, 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:46:10.639099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:44:17.664878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:27:29.882891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9616",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MYH10 was added\ngene: MYH10 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005\nPhenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability\nReview for gene: MYH10 was set to GREEN\nAdded comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.\r\n\r\nOther reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).\r\n\r\nDefects in heart development, body wall closure and other birth defects noted in mouse models. \nSources: Expert list, Literature",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:27:20.440928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4255",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MYH10 was added\ngene: MYH10 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list,Literature\nMode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005\nPhenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability\nReview for gene: MYH10 was set to GREEN\nAdded comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.\r\n\r\nOther reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).\r\n\r\nDefects in heart development, body wall closure and other birth defects noted in mouse models. \nSources: Expert list, Literature",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:27:13.886269+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.67",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MYH10 was added\ngene: MYH10 was added to Microcephaly. Sources: Expert list,Literature\nMode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005\nPhenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability\nReview for gene: MYH10 was set to GREEN\nAdded comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.\r\n\r\nOther reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).\r\n\r\nDefects in heart development, body wall closure and other birth defects noted in mouse models. \nSources: Expert list, Literature",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:23:25.016254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:22:15.182782+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:08:52.380094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-11-08T10:03:44.726516+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 28792876, 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-11-08T09:48:57.713310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:57:40.294416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RB as ready",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:57:40.283325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2rb has been classified as Green List (High Evidence).",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:57:31.732423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:57:12.566295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF2RB were set to ",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:56:54.295604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:56:36.371302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205713, 27514590, 7568173, 30846703; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:54:11.701640+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RA as ready",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:54:11.690337+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Green List (High Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:54:08.389215+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF2RA were changed from Pulmonary alveolar proteinosis to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:53:57.179855+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF2RA were set to ",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:53:47.686350+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:53:35.494871+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:52:49.485827+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:52:16.903386+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:51:45.778782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RA as ready",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:51:45.768176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Green List (High Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:51:38.050525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:51:18.282468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF2RA were set to ",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:51:00.369513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:50:43.180602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:41:20.352483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:41:20.341667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:41:16.790183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:41:00.822402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:40:25.531207+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:40:25.520352+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:40:22.575306+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:39:32.602953+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:39:03.850751+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-08T08:38:31.810227+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:19:59.694653+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTEL1 as ready",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:19:59.683527+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtel1 has been classified as Green List (High Evidence).",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:19:57.747255+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTEL1 were changed from to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:19:28.371198+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTEL1 were set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:19:00.166365+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTEL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:18:35.187364+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25848748, 25607374, 23959892; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:03:10.713951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QRICH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:03:02.490198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: QRICH1 as Amber List (moderate evidence)",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:03:02.480672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qrich1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:02:50.082650+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.; to: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.\r\n\r\nIUGR rarely reported. Other features are unlikely to be detectable perinatally.",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2021-11-05T13:02:21.427324+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: QRICH1: Changed rating: AMBER",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:59:50.865520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM111A as ready",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:59:50.850695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:59:46.576826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM111A were changed from KENNY-CAFFEY SYNDROME to Kenny-Caffey syndrome, type 2, MIM# 127000",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:59:33.777290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM111A were set to ",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:59:21.716404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:59:08.571150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. \nSources: Literature; to: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. Prenatal presentation reported.\r\nSources: Literature",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:58:51.329546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAM111A: Changed publications: 32996714, 23684011, 33750016; Changed phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:48.128456+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF1R as ready",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:48.116760+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:40.128524+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF1R as ready",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:40.112411+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:37.493935+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:28.621558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSF1R as Amber List (moderate evidence)",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:28.610774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:57:02.150617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF1R were set to 30982609; 33749994; 34135456\nPhenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS\nReview for gene: CSF1R was set to AMBER\nAdded comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.\r\n\r\nFour unrelated families reported.\r\n\r\nNote mono-allelic variants cause an adult-onset disorder. \nSources: Literature",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:56:21.615101+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF1R were set to ",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:55:29.481075+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:54:54.138777+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982609, 33749994, 34135456; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476, BANDDOS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:48:04.814663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNPC3 as ready",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:48:04.800642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:47:34.756317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Amber List (moderate evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:47:34.746054+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:47:08.363096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNPC3 was added\ngene: RNPC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 29866761; 32462814; 33650182\nPhenotypes for gene: RNPC3 were set to Growth hormone deficiency; Intellectual disability\nReview for gene: RNPC3 was set to AMBER\nAdded comment: Three families reported, ID in two. \nSources: Literature",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-11-05T12:45:46.164952+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
}
]
}