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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=813",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=811",
"results": [
{
"created": "2022-06-01T16:51:12.122926+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA5 was added\ngene: SPATA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:11.715787+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPART was added\ngene: SPART was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:11.109624+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPAG1 was added\ngene: SPAG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:10.704149+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP110 was added\ngene: SP110 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3)",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:10.040968+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOST was added\ngene: SOST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:09.619257+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNX14 was added\ngene: SNX14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:09.219807+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNORD118 was added\ngene: SNORD118 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:08.617052+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:08.220005+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMS was added\ngene: SMS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:07.819005+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMPD1 was added\ngene: SMPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:07.220805+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMN1 was added\ngene: SMN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:06.833942+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:06.419003+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A6 was added\ngene: SLC9A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:05.815783+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A3 was added\ngene: SLC9A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:05.389038+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A7 was added\ngene: SLC7A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:04.717154+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A8 was added\ngene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:04.319731+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A5 was added\ngene: SLC6A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:03.940569+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A3 was added\ngene: SLC6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:03.392350+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A7 was added\ngene: SLC5A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:02.991265+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:02.522344+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:01.929624+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:01.517808+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A1 was added\ngene: SLC4A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:00.909588+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:00.496682+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC45A2 was added\ngene: SLC45A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:51:00.102266+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A8 was added\ngene: SLC39A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:59.403333+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A4 was added\ngene: SLC39A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:59.006970+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A14 was added\ngene: SLC39A14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:58.607816+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC38A8 was added\ngene: SLC38A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:57.998346+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:57.603892+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35D1 was added\ngene: SLC35D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:57.204812+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A3 was added\ngene: SLC35A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35A3 were set to 24031089; 28777481; 28328131\nPhenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553)",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:56.605231+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:56.210244+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:55.810234+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A2 was added\ngene: SLC2A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:55.222756+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A10 was added\ngene: SLC2A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:54.626319+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:54.098423+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A3 was added\ngene: SLC26A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:53.706768+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A2 was added\ngene: SLC26A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:53.312074+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A46 was added\ngene: SLC25A46 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:52.716108+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A38 was added\ngene: SLC25A38 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:52.319277+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A22 was added\ngene: SLC25A22 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:51.954303+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A19 was added\ngene: SLC25A19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:51.393725+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:51.000062+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A13 was added\ngene: SLC25A13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:50.608586+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A1 was added\ngene: SLC25A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:50.012163+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC24A5 was added\ngene: SLC24A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:49.612766+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:49.228330+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:48.692426+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:48.304850+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:47.908702+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC17A5 was added\ngene: SLC17A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:47.295987+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:46.914273+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A1 was added\ngene: SLC16A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:46.510054+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC13A5 was added\ngene: SLC13A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:45.915698+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A6 was added\ngene: SLC12A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:45.511363+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A5 was added\ngene: SLC12A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:44.907245+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A1 was added\ngene: SLC12A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:44.515107+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKIV2L was added\ngene: SKIV2L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:44.116882+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIL1 was added\ngene: SIL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:43.522529+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOX was added\ngene: SHOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:43.199157+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3TC2 was added\ngene: SH3TC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:42.802247+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3PXD2B was added\ngene: SH3PXD2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:42.202667+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH2D1A was added\ngene: SH2D1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:41.808328+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:41.416542+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:40.826303+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGO1 was added\ngene: SGO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:40.427864+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:40.026897+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCD was added\ngene: SGCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:39.416311+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCB was added\ngene: SGCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:39.021087+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:38.698004+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPB was added\ngene: SFTPB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:38.101498+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETX was added\ngene: SETX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:37.707774+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINH1 was added\ngene: SERPINH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:37.312348+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINF1 was added\ngene: SERPINF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:36.714130+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINA1 was added\ngene: SERPINA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:36.319189+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:35.993735+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPSECS was added\ngene: SEPSECS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:35.316927+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA4A was added\ngene: SEMA4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:34.930213+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENON was added\ngene: SELENON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:34.595365+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23B was added\ngene: SEC23B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:34.007007+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23A was added\ngene: SEC23A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:33.609222+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHAF1 was added\ngene: SDHAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:33.211327+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:32.612593+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL1 was added\ngene: SCYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:32.225038+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:31.701489+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:31.311355+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:30.918105+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN9A was added\ngene: SCN9A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:30.333567+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCARF2 was added\ngene: SCARF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:29.992524+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCARB2 was added\ngene: SCARB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:29.605351+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SC5D was added\ngene: SC5D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:29.018154+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBF2 was added\ngene: SBF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:28.622048+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:28.298171+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:27.706006+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAR1B was added\ngene: SAR1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:27.316735+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:26.917397+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:26.312541+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:50:25.924583+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)",
"entity_name": "RYR1",
"entity_type": "gene"
}
]
}