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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=812",
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{
"created": "2022-06-01T16:52:02.432741+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP6 was added\ngene: TUBGCP6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:01.976529+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:01.223695+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:00.815950+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:00.190651+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTI2 was added\ngene: TTI2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39, 615541 (3)",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:59.709702+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:59.300819+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC7A was added\ngene: TTC7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:58.621807+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:58.218837+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC21B was added\ngene: TTC21B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:57.617322+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC19 was added\ngene: TTC19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:57.219889+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPAN7 was added\ngene: TSPAN7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3)",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:56.593610+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHB was added\ngene: TSHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:56.127992+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:55.714211+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:55.105157+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN2 was added\ngene: TSEN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:54.690649+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM6 was added\ngene: TRPM6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:54.022345+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRNT1 was added\ngene: TRNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:53.615343+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMU was added\ngene: TRMU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:53.205724+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:52.522830+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIT1 was added\ngene: TRIT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:52.121033+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP11 was added\ngene: TRIP11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:51.504695+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:51.089029+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:50.619697+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:50.022727+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:49.597468+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC9 was added\ngene: TRAPPC9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:48.936430+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3)",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:48.514411+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:48.117131+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM3 was added\ngene: TPM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:47.435568+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPK1 was added\ngene: TPK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:46.990601+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPI1 was added\ngene: TPI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)",
"entity_name": "TPI1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:46.318944+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOE1 was added\ngene: TOE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:45.926130+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT1 was added\ngene: TNNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:45.499510+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF11 was added\ngene: TNFSF11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:44.715453+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF13B was added\ngene: TNFRSF13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:44.315459+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:43.710367+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:43.300361+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMTC3 was added\ngene: TMTC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:42.820749+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM70 was added\ngene: TMEM70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:42.225504+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:41.821005+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM5 was added\ngene: TMEM5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:41.410905+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:40.799515+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:40.325077+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:39.710249+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM165 was added\ngene: TMEM165 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk, 614727 (3)",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:39.308998+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM138 was added\ngene: TMEM138 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:38.905261+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM126A was added\ngene: TMEM126A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:38.299694+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM107 was added\ngene: TMEM107 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:37.825038+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMCO1 was added\ngene: TMCO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:37.221030+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:36.822780+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TJP2 was added\ngene: TJP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, 615878 (3)",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:36.408851+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMM8A was added\ngene: TIMM8A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:35.718687+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:35.316545+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:34.713074+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGM1 was added\ngene: TGM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:34.307373+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TF was added\ngene: TF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TF were set to Atransferrinemia, 209300 (3)",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:33.905993+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TELO2 was added\ngene: TELO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:33.223284+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDRD7 was added\ngene: TDRD7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TDRD7 were set to Cataract 36, 613887 (3)",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:32.829197+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:32.423564+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN2 was added\ngene: TCTN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN2 were set to Joubert syndrome 24",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:31.814485+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:31.413693+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:30.790675+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCAP was added\ngene: TCAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:30.331961+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX19 was added\ngene: TBX19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:29.927965+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCK was added\ngene: TBCK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:29.316951+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:28.915725+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCD was added\ngene: TBCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:28.299016+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D24 was added\ngene: TBC1D24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:27.896371+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D23 was added\ngene: TBC1D23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:27.491723+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:26.825607+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAP1 was added\ngene: TAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)",
"entity_name": "TAP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:26.427908+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:26.016610+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TALDO1 was added\ngene: TALDO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003 (3)",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:25.316270+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYP was added\ngene: SYP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3)",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:24.915684+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYN1 was added\ngene: SYN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:24.307833+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:23.905297+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUOX was added\ngene: SUOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:23.493917+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:22.890647+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLG1 was added\ngene: SUCLG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:22.495842+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:22.092374+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP2 was added\ngene: STXBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:21.418621+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STX11 was added\ngene: STX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:21.018108+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STUB1 was added\ngene: STUB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:20.416234+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRADA was added\ngene: STRADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:20.016370+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRA6 was added\ngene: STRA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3)",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:19.611956+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783 (3)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:19.002493+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STIL was added\ngene: STIL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, 612703 (3)",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:18.592456+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT1 was added\ngene: STAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:18.122975+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAR was added\ngene: STAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:17.526198+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAMBP was added\ngene: STAMBP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:17.126411+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST3GAL5 was added\ngene: ST3GAL5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:16.519820+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SSR4 was added\ngene: SSR4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:16.111449+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRD5A3 was added\ngene: SRD5A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379 (3)",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:15.714190+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SQSTM1 was added\ngene: SQSTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:15.031758+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPR was added\ngene: SPR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:14.614880+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPINT2 was added\ngene: SPINT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:14.210595+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPINK5 was added\ngene: SPINK5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:13.610051+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPG11 was added\ngene: SPG11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, 604360 (3)",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:13.207839+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPEG was added\ngene: SPEG was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEG were set to 29614691; 30157964; 25087613; 29474540; 31625632; 28624463; 26578207; 30412272\nPhenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:12.590779+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA7 was added\ngene: SPATA7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3)",
"entity_name": "SPATA7",
"entity_type": "gene"
}
]
}