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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=810",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=808",
"results": [
{
"created": "2022-06-02T06:50:53.713596+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:50:19.593694+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHKB were set to ",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:49:47.468546+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:48:48.954053+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA1 as ready",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:48:48.941605+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta1 has been classified as Green List (High Evidence).",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:48:45.140805+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA1 were changed from to Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:48:13.467889+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTA1 were set to ",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:47:40.823353+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:47:08.703294+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:26:42.876164+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN2 as ready",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:26:42.863221+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn2 has been classified as Green List (High Evidence).",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:26:38.754833+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654 MONDO:0014724",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:26:04.335646+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN2 were set to ",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:25:28.540837+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:24:51.786307+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21565611, 25118024; Phenotypes: Joubert syndrome 24, MIM# 616654 MONDO:0014724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:22:01.638732+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN2 as ready",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:22:01.626087+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn2 has been classified as Green List (High Evidence).",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:21:58.799729+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:21:28.596526+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN2 were set to ",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-02T06:20:50.334787+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:27:47.921136+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP1 as ready",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:27:47.899604+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp1 has been classified as Green List (High Evidence).",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:27:44.659439+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:27:12.086972+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKP1 were set to ",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:26:43.256525+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:26:04.322400+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:24:02.083773+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG4 as ready",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:24:02.009211+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg4 has been classified as Green List (High Evidence).",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:23:56.865979+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG4 were changed from to Hypotrichosis 6, MIM#607903",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:23:26.160210+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG4 were set to ",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:22:52.625071+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:22:18.526247+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12705872, 16439973, 16543896, 16575393, 17392831; Phenotypes: Hypotrichosis 6, MIM#607903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:19:57.316704+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2A2 as ready",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:19:57.301411+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Multiple reports of somatic mosaicism.",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:19:57.267365+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:19:46.468826+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: ATP2A2.",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:19:02.046521+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM# 124200; Acrokeratosis verruciformis, MIM# 101900",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:18:31.188683+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP2A2 were set to ",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:17:58.614879+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP2A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:17:27.785466+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T19:16:46.566747+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10441325, 12072062, 10970890, 11389134; Phenotypes: Darier disease, MIM# 124200, Acrokeratosis verruciformis, MIM# 101900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:38:10.703984+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-06-01T18:36:53.791660+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA5 as ready",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:36:53.779563+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:36:49.934720+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA5 were changed from to Atrial fibrillation, familial, 7, MIM# 612240",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:36:21.221615+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA5 were set to ",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:35:49.751491+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:35:21.118697+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA5 as Amber List (moderate evidence)",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:35:21.106375+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T18:34:50.605262+10:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16772329, 19343045, 23264583; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:26:42.434704+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOE as Amber List (moderate evidence)",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:26:42.423512+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoe has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:26:02.451952+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: E4 allele association with late-onset AD.; to: E4 allele association with late-onset AD. Susceptibility allele.",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:25:47.947373+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APOE: Changed rating: AMBER",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:23:59.998958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:23:22.012357+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:22:46.796297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:21:39.505392+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from congenital hypogonadotropic hypogonadism, MONDO:0015770 to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:20:59.599171+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRDM13: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:20:31.300153+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:20:13.940526+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071) to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:19:35.974446+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:18:55.810912+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4J were changed from microcephaly; intellectual disability; dysmorphic features to Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:18:15.489371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:17:46.783815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4J were changed from microcephaly; intellectual disability; dysmorphic features to Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:17:17.193537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HIST1H4J: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:16:16.080479+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:15:59.839669+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:15:39.960463+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-06-01T17:15:00.513149+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:13.290119+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF469 was added\ngene: ZNF469 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, MIM #229200",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:12.604353+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIF1B was added\ngene: YIF1B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:12.111945+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRC2 was added\ngene: UQCRC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:11.415952+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UPB1 was added\ngene: UPB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UPB1 were set to 24526388\nPhenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM #613161",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:10.993149+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBA8 was added\ngene: TUBA8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:10.314582+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPYL1 was added\ngene: TSPYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:09.810380+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC6B was added\ngene: TRAPPC6B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC6B were set to 28397838; 28626029; 31687267\nPhenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:09.122508+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC12 was added\ngene: TRAPPC12 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC12 were set to 32369837; 28777934\nPhenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:08.709449+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPRKB was added\ngene: TPRKB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPRKB were set to 30053862; 28805828\nPhenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:08.200229+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP53RK was added\ngene: TP53RK was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP53RK were set to 30053862; 28805828\nPhenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:07.506866+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX22 was added\ngene: TBX22 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red\nMode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:07.019963+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D20 was added\ngene: TBC1D20 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list\nMode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D20 were set to 32162791; 24239381; 32740904\nPhenotypes for gene: TBC1D20 were set to Martsolf syndrome; Warburg micro syndrome 4, MIM# 615663",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:06.404082+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS7 was added\ngene: PUS7 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 31583274; 30778726\nPhenotypes for gene: PUS7 were set to OMIM #618342; Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:05.923187+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN23 was added\ngene: PTPN23 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list\nMode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN23 were set to 25558065; 31395947; 27848944; 29899372; 29090338\nPhenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:05.297987+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:04.813080+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6B was added\ngene: PDE6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, MIM #613801",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:04.127331+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPN1LW was added\ngene: OPN1LW was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPN1LW were set to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:03.703875+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT8 was added\ngene: KRT8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRT8 were set to 12724528; 11372009; 15235035\nPhenotypes for gene: KRT8 were set to CIRRHOSIS, FAMILIAL, MIM #215600",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:03.205698+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA3 was added\ngene: ITGA3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266\nPhenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:02.506002+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISCA1 was added\ngene: ISCA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 32092383; 30113620; 30105122; 31016283; 28356563\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:02.016599+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IMPG2 was added\ngene: IMPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, MIM #613801",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:01.327152+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP2 was added\ngene: GTPBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 30790272; 26675814; 29449720\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:00.822723+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FITM2 was added\ngene: FITM2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 30214770; 28067622; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:53:00.197132+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM161A was added\ngene: FAM161A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, MIM #606068",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:59.707092+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG5 was added\ngene: COG5 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG5 were set to 32174980; 31572517; 23228021\nPhenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:59.024020+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIB2 was added\ngene: CIB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:58.611045+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD81 was added\ngene: CD81 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD81 were set to 20237408\nPhenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:58.112882+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:57.493923+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCAP31 was added\ngene: BCAP31 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BCAP31 were set to 31330203; 24011989; 33603160\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:52:57.013649+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFF2 was added\ngene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red\nMode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548",
"entity_name": "AFF2",
"entity_type": "gene"
}
]
}