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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=820",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=818",
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{
"created": "2022-06-01T16:47:02.498046+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM126A was added\ngene: FAM126A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:02.250774+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:02.023500+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:01.821757+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F9 was added\ngene: F9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F9 were set to Hemophilia B, 306900 (3)",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:01.415407+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F8 was added\ngene: F8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F8 were set to Hemophilia A, 306700 (3)",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:01.212995+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F7 was added\ngene: F7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F7 were set to Factor VII deficiency, 227500 (3)",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:01.013078+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F5 was added\ngene: F5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F5 were set to Factor V deficiency, 227400 (3)",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:00.803762+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F2 was added\ngene: F2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:00.595703+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXTL3 was added\ngene: EXTL3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:00.326664+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC8 was added\ngene: EXOSC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:00.151473+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:59.922166+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC2 was added\ngene: EVC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:59.720561+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC was added\ngene: EVC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:59.519784+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETHE1 was added\ngene: ETHE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:59.321517+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:59.129897+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:58.729610+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:58.589136+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:58.395655+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:58.202530+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:58.006543+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:57.806309+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:57.610081+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:57.423343+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:57.226719+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPM2A was added\ngene: EPM2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:57.027383+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:56.832201+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:56.693637+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EOGT was added\ngene: EOGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:56.496224+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:56.301319+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EML1 was added\ngene: EML1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EML1 were set to Band heterotopia, 600348 (3), Autosomal recessive",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:56.108903+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMG1 was added\ngene: EMG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 (3)",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:55.908784+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:55.712172+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELP2 was added\ngene: ELP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP2 were set to Mental retardation, autosomal recessive 58, 617270 (3)",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:55.523784+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:55.126946+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELAC2 was added\ngene: ELAC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 (3)",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:54.933012+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:54.721368+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B5 was added\ngene: EIF2B5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:54.534263+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B4 was added\ngene: EIF2B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:54.397178+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B3 was added\ngene: EIF2B3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:54.200806+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B2 was added\ngene: EIF2B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:54.009507+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B1 was added\ngene: EIF2B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:53.810752+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK4 was added\ngene: EIF2AK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:53.620512+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK3 was added\ngene: EIF2AK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:53.427469+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFNB1 was added\ngene: EFNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:53.289062+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFEMP2 was added\ngene: EFEMP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437 (3)",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:53.095298+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDAR was added\ngene: EDAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:52.903396+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDA was added\ngene: EDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:52.503962+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ECHS1 was added\ngene: ECHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:52.311191+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ECEL1 was added\ngene: ECEL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:52.120069+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EARS2 was added\ngene: EARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 (3)",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:51.947629+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYSF was added\ngene: DYSF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:51.722487+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2LI1 was added\ngene: DYNC2LI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:51.532843+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2H1 was added\ngene: DYNC2H1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:51.402051+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYM was added\ngene: DYM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:51.209702+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSTYK was added\ngene: DSTYK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 (3), Autosomal recessive",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:51.021471+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSP was added\ngene: DSP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:50.824581+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPH1 was added\ngene: DPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:50.630427+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPAGT1 was added\ngene: DPAGT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:50.419971+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DONSON was added\ngene: DONSON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:50.220292+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOLK was added\ngene: DOLK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, 610768 (3)",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:49.892524+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOK7 was added\ngene: DOK7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:49.706880+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK8 was added\ngene: DOCK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:49.512252+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK6 was added\ngene: DOCK6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:49.321122+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK2 was added\ngene: DOCK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK2 were set to Immunodeficiency 40, 616433 (3)",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:49.134456+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3B was added\ngene: DNMT3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\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, 242860 (3)",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:48.996198+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC6 was added\ngene: DNAJC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:48.798460+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC21 was added\ngene: DNAJC21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:48.607240+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC19 was added\ngene: DNAJC19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198 (3)",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:48.413227+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC12 was added\ngene: DNAJC12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:48.223969+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI2 was added\ngene: DNAI2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:48.032353+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI1 was added\ngene: DNAI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:47.890585+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:47.697452+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:47.508144+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF5 was added\ngene: DNAAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3)",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:47.304953+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF4 was added\ngene: DNAAF4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:46.909908+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF3 was added\ngene: DNAAF3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:46.716107+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13, 613193 (3)",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:46.530384+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:46.395411+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL3 was added\ngene: DLL3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:46.206730+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG3 was added\ngene: DLG3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:46.012188+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:45.820974+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\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 Dyskeratosis congenita, X-linked, 305000 (3)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:45.634494+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIS3L2 was added\ngene: DIS3L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:45.505641+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHODH was added\ngene: DHODH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to Miller syndrome, 263750 (3)",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:45.319072+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:44.955189+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:44.793941+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:44.605202+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:44.413377+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGKE was added\ngene: DGKE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:44.230466+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGAT1 was added\ngene: DGAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:44.098160+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DENND5A was added\ngene: DENND5A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:43.913865+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX59 was added\ngene: DDX59 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 (3)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:43.719959+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX11 was added\ngene: DDX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:43.538788+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDR2 was added\ngene: DDR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:43.327984+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDHD2 was added\ngene: DDHD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033 (3)",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:42.997316+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:42.808964+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCX was added\ngene: DCX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:42.620735+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCLRE1C was added\ngene: DCLRE1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:42.437197+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCHS1 was added\ngene: DCHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:42.292281+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCDC2 was added\ngene: DCDC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3)",
"entity_name": "DCDC2",
"entity_type": "gene"
}
]
}