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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1477",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1475",
"results": [
{
"created": "2020-12-13T17:16:53.223546+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp15 has been classified as Green List (High Evidence).",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:16:50.604763+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP15 were changed from to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:16:23.829261+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP15 were set to ",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:15:55.405635+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP15 was changed from Unknown to Other",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:15:25.941428+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:14:49.059603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP15 as ready",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:14:49.052499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp15 has been classified as Green List (High Evidence).",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:14:40.994965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP15 were changed from to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:14:22.807312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP15 were set to ",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:14:04.981114+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP15 was changed from Unknown to Other",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:13:47.170092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:12:38.782354+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: BMP15 as ready",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:12:38.771226+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: bmp15 has been classified as Green List (High Evidence).",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:12:35.836528+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": "Phenotypes for gene: BMP15 were changed from Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510 to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:12:24.088291+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP15 were set to ",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:12:16.319880+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP15 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T17:12:03.247551+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other",
"entity_name": "BMP15",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:44:11.373525+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMHR2 as ready",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:44:11.365641+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amhr2 has been classified as Red List (Low Evidence).",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:44:09.032930+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMHR2 were changed from to Primary ovarian insufficiency",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:43:55.571432+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMHR2 were set to ",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:43:48.054744+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMHR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:43:42.045642+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMHR2 as Red List (low evidence)",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:43:42.037207+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amhr2 has been classified as Red List (Low Evidence).",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-13T14:43:31.816768+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24912417, 24146295; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:08:46.944086+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMH as ready",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:08:46.933531+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amh has been classified as Amber List (Moderate Evidence).",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:08:44.139282+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMH were changed from to Primary ovarian insuffiency",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:07:31.693341+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMH were set to ",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:07:24.754473+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:03:48.200436+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMH as Amber List (moderate evidence)",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:03:48.192030+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amh has been classified as Amber List (Moderate Evidence).",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T21:03:33.742332+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25750103; Phenotypes: Primary ovarian insuffiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:57:01.686622+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:57:01.649625+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:56:58.673136+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:56:32.443953+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AIRE was changed from to Other",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:56:26.559038+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:56:15.984464+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hypogonadism is a feature.; to: Hypogonadism is a feature. Multiple families with bi-allelic variants reported.",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:55:59.870634+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AIRE: Changed publications: 16965330, 19758376, 19807739",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T20:54:44.913384+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:02:49.496351+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NOG as ready",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:02:49.489032+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nog has been classified as Red List (Low Evidence).",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:02:46.824127+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from to Symphalangism, proximal, 1A MIM#185800",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:02:39.833129+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NOG were set to ",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:02:31.140705+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:02:20.207046+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: 15066478, 22088931, 17381491; Phenotypes: Symphalangism, proximal, 1A MIM#185800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:01:15.190864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANX1 as ready",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:01:15.174525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: panx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:01:07.004438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PANX1 as Amber List (moderate evidence)",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:01:06.994556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: panx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T17:00:45.277111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PANX1 was added\ngene: PANX1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PANX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PANX1 were set to 30918116; 32838805\nPhenotypes for gene: PANX1 were set to Oocyte maturation defect 7, MIM# 618550\nReview for gene: PANX1 was set to AMBER\nAdded comment: Two unrelated families, some functional data. Clinical presentation is with infertility. \nSources: Expert list",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:57:56.680539+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANX1 as ready",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:57:56.669463+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: panx1 has been classified as Red List (Low Evidence).",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:57:53.862144+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANX1 were changed from to Oocyte maturation defect 7, MIM# 618550",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:57:47.206568+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANX1 were set to ",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:57:39.962018+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PANX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:57:30.180325+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PANX1: Rating: RED; Mode of pathogenicity: None; Publications: 30918116, 32838805; Phenotypes: Oocyte maturation defect 7, MIM# 618550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:49:35.976003+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FXPOI as Green List (high evidence)",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2020-12-11T16:49:35.965466+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxpoi has been classified as Green List (High Evidence).",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2020-12-11T16:49:26.129479+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXPOI was added\nSTR: FXPOI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list\n5'UTR tags were added to STR: FXPOI.\nMode of inheritance for STR: FXPOI was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for STR: FXPOI were set to 20301558\nPhenotypes for STR: FXPOI were set to Premature ovarian failure 1 MIM#311360\nReview for STR: FXPOI was set to GREEN\nSTR: FXPOI was marked as clinically relevant\nSTR: FXPOI was marked as current diagnostic\nAdded comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]\r\nRNA-mediated toxicity may result in the POI phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.\r\nIntermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats\r\nPremutation - risk of FXPOI: ~55 to ~200 repeats\r\nFull mutation - fragile X syndrome (FXS): >200 repeats\r\nIt is estimated that 21% of women who carry a premutation develop FXPOI. The association between repeat size of the premutation allele and FXPOI is nonlinear; women with 80-99 repeats are at greatest risk for FXPOI. \nSources: Expert list",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2020-12-11T16:42:29.102315+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FMR1 as ready",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:42:29.094265+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmr1 has been removed from the panel.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:41:27.210061+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FMR1 as No list",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:41:27.205379+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Premature ovarian failure caused by an STR in this gene, which has been added under STRs",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:41:27.169983+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmr1 has been removed from the panel.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:37:10.395583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5647",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NANOS3 as ready",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:37:10.388080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5647",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nanos3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:36:47.949604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5647",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NANOS3 as Amber List (moderate evidence)",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:36:47.938210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5647",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nanos3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:36:32.061990+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: NANOS3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:36:25.237369+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NANOS3 were set to ",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:36:23.635626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5646",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NANOS3 was added\ngene: NANOS3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NANOS3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NANOS3 were set to 25054146; 24091668\nPhenotypes for gene: NANOS3 were set to Primary ovarian insufficiency\nReview for gene: NANOS3 was set to AMBER\nAdded comment: A homozygous missense (p.Glu120Lys) was identified in two Brazillian sisters with primary amenorrhea, and supporting in vitro functional assays. A heterozygous missense (p.Arg153Trp) was identified in a Chinese woman with POI, with supporting in vitro functional assays. Also, supporting null mouse model. \nSources: Literature",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:36:08.519989+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: NANOS3 were changed from to Primary ovarian insufficiency",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:34:53.223349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5645",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MSH5 as ready",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:34:53.213447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5645",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msh5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:34:39.475466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5645",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MSH5 as Amber List (moderate evidence)",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:34:39.467697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5645",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msh5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:34:15.856881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5644",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSH5 was added\ngene: MSH5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MSH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSH5 were set to 28175301; 9916805; 24970489\nPhenotypes for gene: MSH5 were set to Premature ovarian failure 13 MIM#617442\nReview for gene: MSH5 was set to AMBER\nAdded comment: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. \nSources: Literature",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:31:49.277914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PATL2 as ready",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:31:49.270379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: patl2 has been classified as Green List (High Evidence).",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:31:40.587302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PATL2 as Green List (high evidence)",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:31:40.579773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: patl2 has been classified as Green List (High Evidence).",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:31:22.828941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PATL2 was added\ngene: PATL2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PATL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PATL2 were set to 28965844; 28965849; 32048119; 30765866\nPhenotypes for gene: PATL2 were set to Oocyte maturation defect 4, MIM# 617743\nReview for gene: PATL2 was set to GREEN\nAdded comment: More than 5 unrelated families reported, presentation is with infertility. \nSources: Expert list",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:50.740302+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PATL2 as ready",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:50.731820+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: patl2 has been classified as Red List (Low Evidence).",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:48.599052+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PATL2 were changed from to Oocyte maturation defect 4, MIM# 617743",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:41.185957+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PATL2 were set to ",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:34.239712+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PATL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:23.602717+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PATL2: Changed rating: RED",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:29:17.256629+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PATL2: Rating: ; Mode of pathogenicity: None; Publications: 28965844, 28965849, 32048119, 30765866; Phenotypes: Oocyte maturation defect 4, MIM# 617743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:28:22.460914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5641",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FANCM were changed from Spermatogenic failure 28, MIM# 618086 to Spermatogenic failure 28, MIM# 618086; Premature ovarian failure 15 MIM#618096",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:27:58.809966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5640",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FANCM were set to 30075111; 29895858; 28837162",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:27:29.017317+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5639",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FANCM as Green List (high evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:27:29.012454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5639",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Green for POI",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:27:28.987629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5639",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fancm has been classified as Green List (High Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:26:35.805358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5638",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29231814, 28837162, 33036707, 25010009; Phenotypes: Premature ovarian failure 15 MIM#618096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:26:33.487163+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-11T16:21:47.303610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5638",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF4ENIF1 as ready",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
},
{
"created": "2020-12-11T16:21:47.291984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5638",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
}
]
}