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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1251",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1249",
"results": [
{
"created": "2021-08-06T11:01:28.861100+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: GNAS were set to 10980525; [11406605; 12024005; 15800843]; 15181091; 9506752; 12024004; http://igc.otago.ac.nz/home.html; 15592469; [15592469; 11788646; 1944469; PMID: 2109828; 30794780\nPhenotypes for gene: GNAS were set to Affected tissue: kidney, bone, brain; pseudopseudohypoparathyroidism; Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:28.815311+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: CDKN1C were set to 10424811; PMID: 8841187; 22205991]; 20503313; 19843502; http://igc.otago.ac.nz/home.html; [15372379; 23511928; 30794780\nPhenotypes for gene: CDKN1C were set to Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Phenotypes resulting from gene over expression: IMAGE syndrome; Silver-Russell Syndrome",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:28.787283+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Imprinting disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-06T10:36:05.358477+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL7 as ready",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:36:05.344663+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul7 has been classified as Green List (High Evidence).",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:36:01.361286+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL7 were changed from 3-M syndrome 1 273750 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:34:30.113916+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL7 were set to ",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:33:54.561767+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:33:07.446162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL7 as ready",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:33:07.435721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul7 has been classified as Green List (High Evidence).",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:32:54.131624+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL7 were changed from to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:32:35.491048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL7 were set to ",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:32:17.702012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:31:59.222833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:31:18.199958+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL7 as ready",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:31:18.188517+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul7 has been classified as Green List (High Evidence).",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:31:14.536667+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL7 were changed from 3M; 3-M syndrome 1, 273750 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:30:59.555504+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL7 were set to ",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:30:48.495134+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:27:49.908100+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKN1C: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:27:38.751190+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:27:38.740778+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:27:36.517458+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; SRS/BWS to IMAGe syndrome, MIM# 614732; Silver-Russell syndrome",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:27:24.304313+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKN1C were set to ",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:27:14.207886+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CDKN1C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:26:56.557482+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKN1C: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:26:50.431210+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: IMAGe syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis.\r\n\r\nReported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved \"hot-spot\" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.; to: IMAGe syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis.\r\n\r\nReported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved \"hot-spot\" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.\r\n\r\nNote LoF variants in this gene cause overgrowth and BWS.",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:26:33.541619+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634751, 33076988, 31976094, 31497289; Phenotypes: IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:20:12.620804+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.7",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: PACS1 was added\ngene: PACS1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PACS1 were set to 32672908\nPhenotypes for gene: PACS1 were set to 615009\nPenetrance for gene: PACS1 were set to Complete\nReview for gene: PACS1 was set to GREEN\ngene: PACS1 was marked as current diagnostic\nAdded comment: Multiple papers reporting patients with colobomata - well described. \nSources: Literature",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:19:28.490012+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC8 as ready",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:19:28.479806+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc8 has been classified as Green List (High Evidence).",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:19:26.009642+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC8 were changed from 3M; 3-M syndrome 3, 614205 to 3-M syndrome 3, MIM# 614205",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:19:18.162623+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC8 were set to 21737058",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:17:13.327374+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 22325252, 28675896, 28675896; Phenotypes: 3-M syndrome 3, MIM# 614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:13:50.127254+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBL as ready",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:13:50.117780+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Green List (High Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:13:44.496479+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; CBL-related disorder, MONDO:0013308",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:12:30.717423+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:12:30.708094+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:12:28.107043+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J to Fanconi anaemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:12:05.010693+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Prenatal and postnatal growth failure is a key feature of FA.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:10:58.159730+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:10:58.150199+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:10:55.599154+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1 to Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:10:35.067744+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Pre-natal and post-natal growth failure is a key feature.",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:09:44.232320+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:09:44.222630+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:09:41.673100+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAF were changed from Noonan Syndrome; LEOPARD Syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3 to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:09:30.716608+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAF were set to 16474404; 21396583; 16825433; 19206169",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:09:12.730727+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Growth failure, feeding difficulties, short stature are prominent early presenting features.",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:08:42.750738+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:08:42.741354+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:08:39.728414+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom to Bloom syndrome, MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:08:25.743780+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Proportionate pre- and postnatal growth deficiency is a key feature.",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:06:41.386925+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:06:41.377913+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:06:39.491238+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from KBG syndrome, 148050; KBG to KBG syndrome, MIM# 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:06:31.904967+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD11 were set to 21782149",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:06:14.779000+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33955014, 32258089, 32124548, 31191201, 29565525, 28449295; Phenotypes: KBG syndrome, MIM# 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:01:15.162185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACAN were set to ",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T10:00:53.444894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACAN: Added comment: Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations.\r\n\r\nWell established gene-disease association, multiple families reported.\r\n\r\nNote fewer families reported with bi-allelic variants in this gene and extreme short stature.; Changed publications: 24762113, 27870580, 19110214, 30124491, 28331218, 20137779; Changed phenotypes: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800, Spondyloepimetaphyseal dysplasia, aggrecan type 612813",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T09:59:34.212312+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAN as ready",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T09:59:34.201454+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acan has been classified as Green List (High Evidence).",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T09:59:31.369606+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAN were changed from Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800 to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T09:59:17.797365+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACAN were set to 24762113; 27870580",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T09:58:50.688231+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACAN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T09:58:39.928084+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331218, 20137779, 24762113, 19110214, 30124491; Phenotypes: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800, Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:24:10.459428+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKBIA as ready",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:24:10.448556+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkbia has been classified as Green List (High Evidence).",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:24:07.306959+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKBIA were changed from to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132; Ectodermal dysplasia; TCR/ BCR activation impaired; low memory and isotype switched B cells; decreased IgG and IgA; elevated IgM; poor specific antibody responses; diarrhoea; agammaglobulinaemia; ectodermal dysplasia; recurrent respiratory and gastrointestinal infections; colitis; variable defects of skin, hair and teeth",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:23:42.119751+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFKBIA were set to ",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:20:45.414513+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NFKBIA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:20:17.322522+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFKBIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:19:19.421394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKBIA as ready",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:19:19.410803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkbia has been classified as Green List (High Evidence).",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:19:10.545756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKBIA were changed from to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132; Ectodermal dysplasia; TCR/ BCR activation impaired; low memory and isotype switched B cells; decreased IgG and IgA; elevated IgM; poor specific antibody responses; diarrhoea; agammaglobulinaemia; ectodermal dysplasia; recurrent respiratory and gastrointestinal infections; colitis; variable defects of skin, hair and teeth",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:18:44.407794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NFKBIA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-06T06:17:38.650622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFKBIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:10:26.074587+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB2 as ready",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:10:26.047428+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:10:23.379317+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:09:59.192547+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFKB2 were set to ",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:09:34.528852+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:08:50.942675+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140114, 24888602, 25524009, 31417880; Phenotypes: Immunodeficiency, common variable, 10 MIM# 615577, Low serum IgG, IgA, IgM, low B cell numbers, low switched memory B cells, Recurrent sinopulmonary infections, Alopecia, endocrinopathies, ACTH deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:08:23.534432+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB2 as ready",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:08:23.524194+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:07:57.141771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB2 as ready",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:07:57.130189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:07:49.972313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:07:22.396807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFKB2 were set to ",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:07:02.750916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:06:34.377115+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:05:57.875634+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFKB2 were set to ",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:05:33.734852+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:03:27.529499+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB1 as ready",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:03:27.519406+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Green List (High Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:03:24.494403+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:02:58.959198+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFKB1 were set to ",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:02:34.260261+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2021-08-05T19:02:02.874135+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26279205, 32278790, 27022143, 7834752; Phenotypes: Immunodeficiency, common variable, 12 MIM# 616576, Normal-low IgG, IgA, IgM, low-normal B cells, low switched memory B cells, hypogammaglobulinaemia, recurrent respiratory and gastrointestinal infections, Chronic obstructive pulmonary disease COPD, EBV proliferation, autoimmunity, alopecia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFKB1",
"entity_type": "gene"
}
]
}