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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=823",
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"results": [
{
"created": "2022-06-01T16:46:11.790550+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP1 was added\ngene: ATP6AP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:11.408419+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225 (3)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:11.300251+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATOH7 was added\ngene: ATOH7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:11.190631+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:11.031924+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATF6 was added\ngene: ATF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.928609+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATCAY was added\ngene: ATCAY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type, 601238 (3)",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.813106+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATAD1 was added\ngene: ATAD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive",
"entity_name": "ATAD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.712973+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.598516+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPM was added\ngene: ASPM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.431321+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPA were set to Canavan disease, 271900 (3)",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.312932+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASNS was added\ngene: ASNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.219512+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:10.086881+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASCC1 was added\ngene: ASCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.919949+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAH1 was added\ngene: ASAH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, 228000 (3)",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.806486+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.699783+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARV1 was added\ngene: ARV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.536435+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.429304+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.323093+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARPC1B was added\ngene: ARPC1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.212063+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC4 was added\ngene: ARMC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451 (3)",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:09.103109+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.994140+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.834806+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGEF9 was added\ngene: ARHGEF9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.731593+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Argininemia, 207800 (3)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.631431+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARFGEF2 was added\ngene: ARFGEF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.529363+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AQP2 was added\ngene: AQP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.419793+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.307344+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.206274+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4S1 was added\ngene: AP4S1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:08.097825+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.945847+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (3)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.825714+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3B2 was added\ngene: AP3B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.730205+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP1S2 was added\ngene: AP1S2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.624521+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR2 was added\ngene: ANTXR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3)",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.524749+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.422184+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKS6 was added\ngene: ANKS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3)",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.318593+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.216264+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:07.109985+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.998708+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.838873+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALOXE3 was added\ngene: ALOXE3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.742946+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALOX12B was added\ngene: ALOX12B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3)",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.632057+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.530773+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3)",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.437051+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3)",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.333407+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG6 was added\ngene: ALG6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.228876+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.118057+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG2 was added\ngene: ALG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:06.016626+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG12 was added\ngene: ALG12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3)",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.930889+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG11 was added\ngene: ALG11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3)",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.802411+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG1 was added\ngene: ALG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.702241+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.598070+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.495099+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.340961+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.239049+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH1A3 was added\ngene: ALDH1A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3)",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.139908+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:05.037192+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAD was added\ngene: ALAD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3)",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.961923+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKR1D1 was added\ngene: AKR1D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3)",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.831818+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.717897+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIPL1 was added\ngene: AIPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.619157+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIMP1 was added\ngene: AIMP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3)",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.517149+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIFM1 was added\ngene: AIFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3)",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.413962+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.312078+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGXT was added\ngene: AGXT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.200171+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGT was added\ngene: AGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (3)",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:04.094278+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGRN was added\ngene: AGRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.971784+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPS was added\ngene: AGPS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.827939+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGL was added\ngene: AGL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.734160+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGK was added\ngene: AGK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.625287+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGBL5 was added\ngene: AGBL5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.521398+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGA was added\ngene: AGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.421926+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADSL was added\ngene: ADSL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.323654+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRV1 was added\ngene: ADGRV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.210911+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRG1 was added\ngene: ADGRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:03.108185+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAT3 was added\ngene: ADAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.993037+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.850839+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.743030+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS2 was added\ngene: ADAMTS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.628072+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.524798+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA2 was added\ngene: ADA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.421242+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA was added\ngene: ADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.309693+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA1 was added\ngene: ACTA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.203678+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:02.099862+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACO2 was added\ngene: ACO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3)",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.996846+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACE was added\ngene: ACE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.898019+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.741418+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.647559+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.555559+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.443584+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABHD5 was added\ngene: ABHD5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3)",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.335252+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.235605+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.128959+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3)",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:01.023265+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB4 was added\ngene: ABCB4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:00.939722+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:00.814474+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA3 was added\ngene: ABCA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:00.708927+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA12 was added\ngene: ABCA12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:00.610275+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABAT was added\ngene: ABAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3)",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:00.511198+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AARS2 was added\ngene: AARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3)",
"entity_name": "AARS2",
"entity_type": "gene"
}
]
}