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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1177",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1175",
"results": [
{
"created": "2021-10-24T17:52:12.746302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOK7 was added\ngene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOK7 were set to 30266093\nPhenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:12.561470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK6 was added\ngene: DOCK6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:12.375593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3B was added\ngene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:12.258195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:12.113113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI1 was added\ngene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:11.945652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH9 was added\ngene: DNAH9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH9 were set to 30471717; 30471718\nPhenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:11.792966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:11.602675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:11.419748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF4 was added\ngene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:11.280046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF3 was added\ngene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:11.093487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:10.876046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMPK was added\ngene: DMPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:10.757763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL4 was added\ngene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6",
"entity_name": "DLL4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:10.586479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL3 was added\ngene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:10.455879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:10.271914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIS3L2 was added\ngene: DIS3L2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:10.153665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHODH was added\ngene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.969996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHFR was added\ngene: DHFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.777574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 31840946\nPhenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.658930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.477366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX3X was added\ngene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: DDX3X were set to 30266093; 26235985; 25533962\nPhenotypes for gene: DDX3X were set to Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.359336+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX11 was added\ngene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.181139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDR2 was added\ngene: DDR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:09.060347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCX was added\ngene: DCX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: DCX were set to LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.945238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCHS1 was added\ngene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.760344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DARS was added\ngene: DARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.580484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DAG1 was added\ngene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.463941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.346264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP21A2 was added\ngene: CYP21A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.160336+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP1B1 was added\ngene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:08.048914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP17A1 was added\ngene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:07.865882+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B1 was added\ngene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:07.751939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11A1 was added\ngene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP11A1 were set to 28425981\nPhenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:07.568254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CWC27 was added\ngene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWC27 were set to 28285769\nPhenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:07.451965+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL7 was added\ngene: CUL7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3-M SYNDROME 1",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:07.271783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL4B was added\ngene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:07.153904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSK was added\ngene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSK were set to PYCNODYSOSTOSIS",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.972409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSD was added\ngene: CTSD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.855222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSA was added\ngene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSA were set to 7759227\nPhenotypes for gene: CTSA were set to GALACTOSIALIDOSIS",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.673123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNNB1 was added\ngene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNNB1 were set to 27915094\nPhenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.556631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTCF was added\ngene: CTCF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.374582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.257125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSPP1 was added\ngene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:06.076736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSNK2A1 was added\ngene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.963331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYGD was added\ngene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYGD were set to CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3",
"entity_name": "CRYGD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.847551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYGC was added\ngene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT",
"entity_name": "CRYGC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.667598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYBB3 was added\ngene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2",
"entity_name": "CRYBB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.552618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYBB2 was added\ngene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2",
"entity_name": "CRYBB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.372925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYBB1 was added\ngene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CRYBB1 were set to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3",
"entity_name": "CRYBB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.260131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYBA4 was added\ngene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:05.076623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYBA1 was added\ngene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.959797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYAA was added\ngene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.846223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRTAP was added\ngene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.668074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRLF1 was added\ngene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.575188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.375773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRB2 was added\ngene: CRB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.255587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:04.089119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX7B was added\ngene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.954566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ9 was added\ngene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ9 were set to 30712880\nPhenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.773816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ4 was added\ngene: COQ4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.658955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLEC11 was added\ngene: COLEC11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC11 were set to 3MC SYNDROME 2",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.477849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.361818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A1 was added\ngene: COL9A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6; STICKLER SYNDROME TYPE 4",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.249311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:03.079848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A2 was added\ngene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:02.950464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A1 was added\ngene: COL6A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL6A1 were set to COL6A1 associated myopathy",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:02.773149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A3BP was added\ngene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:02.652271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A2 were set to 32732225\nPhenotypes for gene: COL4A2 were set to PORENCEPHALY 2",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:02.475258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A1 were set to 30266093; 32732225; 30712878\nPhenotypes for gene: COL4A1 were set to PORENCEPHALY 1",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:02.304675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403\nPhenotypes for gene: COL3A1 were set to HP:0006496; HP:0002126; HP:0001883",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:02.146194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL2A1 was added\ngene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:01.980815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A2 was added\ngene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL1A2 were set to Osteogenesis imperfecta; Ehlers-Danlos syndrome",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:01.753245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A1 was added\ngene: COL1A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL1A1 were set to OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:01.563306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL18A1 was added\ngene: COL18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:01.402644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A2 was added\ngene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A2 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:01.257419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A1 was added\ngene: COL11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:01.069723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL10A1 was added\ngene: COL10A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:00.885305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG8 was added\ngene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG8 were set to 30690882\nPhenotypes for gene: COG8 were set to COG8-CDG",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:00.765612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG7 was added\ngene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG7 were set to COG7-CDG",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:00.649192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG4 was added\ngene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG4 were set to 30290151\nPhenotypes for gene: COG4 were set to COG4-CDG; Saul-Wilson syndrome, 618150",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:00.488130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG1 was added\ngene: COG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG1 were set to COG1-CDG",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:00.345319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:00.173813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTNAP2 was added\ngene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.972227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTNAP1 was added\ngene: CNTNAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.858816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNOT3 was added\ngene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CNOT3 were set to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.676585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNOT1 was added\ngene: CNOT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CNOT1 were set to 31006513; 31006510\nPhenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis, 618500\nMode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.562826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLPB was added\ngene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.451506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.271772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CKAP2L was added\ngene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.163877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHUK was added\ngene: CHUK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHUK were set to COCOON SYNDROME",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:59.053624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHSY1 was added\ngene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.874323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST3 was added\ngene: CHST3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.766407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST14 was added\ngene: CHST14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.655561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNG was added\ngene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.480239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRND was added\ngene: CHRND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Several associated, probably most relevant is lethal multiple pterygium syndrome 253290",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.369093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA1 were set to 18252226; 30177536\nPhenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.258005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHKB was added\ngene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:58.147467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD7 were set to CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.971698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD4 was added\ngene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome MONDO:0014946; Sifrim-Hitz-Weiss syndrome OMIM:617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:51:57.862133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHAT was added\ngene: CHAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic 254210",
"entity_name": "CHAT",
"entity_type": "gene"
}
]
}