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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1476",
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"results": [
{
"created": "2020-12-14T17:24:35.766533+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG6 as ready",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T17:24:35.746860+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Green List (High Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T17:05:01.488778+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T17:04:18.816679+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG6 were set to ",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T17:02:22.346710+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T17:01:52.885802+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:47:22.410268+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG5 as ready",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:47:22.402896+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog5 has been classified as Green List (High Evidence).",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:47:17.815562+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG5 were set to ",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:47:03.802324+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG5 as Green List (high evidence)",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:47:03.794891+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog5 has been classified as Green List (High Evidence).",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:46:47.452969+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:46:03.889474+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG5 as ready",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:46:03.881552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog5 has been classified as Green List (High Evidence).",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:45:57.773437+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:45:22.315080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG5 were set to ",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:44:43.914743+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:44:11.748374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:43:12.997991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG5 as ready",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:43:12.987859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog5 has been classified as Green List (High Evidence).",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:43:04.522580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:42:44.625760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG5 were set to ",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:42:24.367413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:42:03.716570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:41:03.294248+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG5 as ready",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:41:03.283242+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog5 has been classified as Green List (High Evidence).",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:41:00.907323+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:40:29.092640+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG5 were set to ",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:33:52.115023+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T16:33:22.822238+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:49:37.934470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIGLA as ready",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:49:37.925402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: figla has been classified as Green List (High Evidence).",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:49:27.928238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIGLA were changed from to Premature ovarian failure 6, MIM# 612310",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:48:57.519831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIGLA were set to ",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:48:36.722480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIGLA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:48:16.325350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:46:57.919186+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIGLA as ready",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:46:57.911224+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: figla has been classified as Green List (High Evidence).",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:46:55.565126+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIGLA were changed from Premature ovarian failure,612310 to Premature ovarian failure, MIM#612310",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:46:43.120356+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIGLA were set to ",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:46:33.645163+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIGLA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T15:46:21.654958+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:33:28.501890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESR1 as ready",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:33:28.493885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr1 has been classified as Green List (High Evidence).",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:33:21.068085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:32:46.638500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESR1 were set to ",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:32:28.457003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:32:09.104703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:29:43.886938+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESR1 as ready",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:29:43.879249+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr1 has been classified as Green List (High Evidence).",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:29:41.601605+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:29:24.822242+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESR1 were set to ",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:29:16.821998+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESR1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:29:07.295720+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:23:40.798647+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B5 as ready",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:23:40.790592+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:23:29.562854+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:22:43.011696+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:22:43.001312+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:22:34.376114+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:21:44.312627+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:21:44.301751+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:21:31.579112+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:20:01.989984+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP19A1 as ready",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:20:01.971246+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp19a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:19:59.200756+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP19A1 were set to ",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:19:48.332678+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303; Phenotypes: Aromatase deficiency, MIM# 613546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:16:42.615668+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP17A1 as ready",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:16:42.604626+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp17a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:16:35.410148+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:14:22.253915+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTG4 as Red List (low evidence)",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:14:22.246620+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btg4 has been classified as Red List (Low Evidence).",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:14:11.862056+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BTG4: Added comment: Normal ovarian function, presents with infertility.; Changed rating: RED",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:05:25.548882+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:05:14.057240+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:04:58.232481+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:04:43.069375+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:04:26.141016+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:03:51.765027+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactylyCongenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:03:27.054993+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:02:55.113616+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:02:38.103422+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:02:07.505957+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:01:51.467372+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:01:21.114322+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:01:02.275947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:00:41.619486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T09:00:23.916184+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-14T08:59:42.314958+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly",
"entity_name": "SHMT2",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:24:32.397527+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:24:32.386841+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:24:29.359246+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:24:22.652822+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD7 as Amber List (moderate evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:24:22.642048+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:24:13.998045+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834967; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:18:47.644687+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANOS1 as ready",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:18:47.625064+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anos1 has been classified as Green List (High Evidence).",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:18:39.324969+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:17:15.393212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: BMP15: Only affects females, variants inherited from asymptomatic fathers. Over 50 individuals reported.",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:16:53.234965+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP15 as ready",
"entity_name": "BMP15",
"entity_type": "gene"
}
]
}