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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1684",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1682",
"results": [
{
"created": "2020-08-08T12:50:33.866732+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:44:31.870111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24D as ready",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:44:31.858750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Green List (High Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:44:23.892205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:44:06.033270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC24D were set to ",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:43:49.132735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:43:32.343016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:33:54.198549+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24D as ready",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:33:54.187821+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Green List (High Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:06:02.624426+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:05:41.880918+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC24D were set to ",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:05:16.122018+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:04:05.856934+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:00:59.381136+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24D as ready",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:00:59.369170+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Green List (High Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:00:55.850757+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC24D as Green List (high evidence)",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:00:55.842052+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Green List (High Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T12:00:33.367003+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24D was added\ngene: SEC24D was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list\nMode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24D were set to 30462379; 27942778; 26467156; 25683121\nPhenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294\nReview for gene: SEC24D was set to GREEN\nAdded comment: Five families reported, hydrocephalus is part of the phenotype. \nSources: Expert list",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:18:35.054773+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HB as ready",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:18:35.042978+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:18:32.677461+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:18:24.796259+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P4HB were set to 25683117; 29384951",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:17:57.710951+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: P4HB: Changed publications: 30063094, 29263160, 25683117, 29384951; Changed phenotypes: Cole-Carpenter syndrome 1, MIM# 112240",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:17:53.744515+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P4HB were set to ",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:17:32.637921+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:17:09.031702+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:16:20.662620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HB as ready",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:16:20.653960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:16:13.521888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:15:55.410610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P4HB were set to ",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:15:36.970242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:15:18.080347+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Craniosynostosis is a feature of this syndrome. \nSources: Expert list; to: Craniosynostosis is a feature of this syndrome. Note recurrent de novo missense variant, p.Tyr393Cys.\r\nSources: Expert list",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:14:57.672751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:13:08.744408+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HB as ready",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:13:08.734843+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:13:04.385750+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: P4HB as Green List (high evidence)",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:13:04.377094+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:12:33.663331+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P4HB was added\ngene: P4HB was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list\nMode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P4HB were set to 30063094; 29263160; 25683117; 29384951\nPhenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240\nReview for gene: P4HB was set to GREEN\nAdded comment: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype. \nSources: Expert list",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:00:25.760665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDZ as ready",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:00:25.749507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Green List (High Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:00:19.495686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T11:00:02.915685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDZ were set to ",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:59:46.757336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:58:45.190480+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:58:32.353302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:58:22.347818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:57:19.533264+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDZ as ready",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:57:19.505742+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Green List (High Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:57:12.451703+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:56:51.916930+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDZ were set to ",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:56:30.885965+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:56:01.018344+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:48:46.972915+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:48:46.964498+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:48:43.202660+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF7 as Amber List (moderate evidence)",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:48:43.191944+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:48:18.144453+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF7 were set to 26174511; 21552264\nPhenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome\nReview for gene: KIF7 was set to AMBER\nAdded comment: Variants in KIF7 cause ciliopathies, which range in severity of structural brain malformations with hydrolethalus at the extreme end of the spectrum (one family reported). Note another report of bi-allelic variants in an individuals with a milder phenotype, more consistent with acrocallosal syndrome, who also had hydrocephalus. \nSources: Expert list",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-08-08T10:40:06.493922+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ISLR2: Changed rating: AMBER",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:51:02.527394+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FMR1 as ready",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:51:02.517299+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Red List (Low Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:51:00.256953+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from to Fragile X syndrome, MIM# 300624",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:50:33.530779+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FMR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:49:29.708922+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FMR1 as Red List (low evidence)",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:49:29.699906+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Red List (Low Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-08T09:49:06.762198+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM# 300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:05:18.895727+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:04:50.519271+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GNT2 were set to ",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:04:24.977667+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:04:01.236347+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported, arthrogryposis not a prominent feature.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:02:45.903960+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; to: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities observed in only one of four affected sibs in the other family.",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:02:07.080685+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:01:49.450795+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GNT2 were set to ",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T21:00:12.031880+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:59:41.479398+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:57:38.145906+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:57:16.700069+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GNT2 were set to ",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:56:50.472705+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:56:22.034970+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. In one family, the brain phenotype was that of anencephaly, and in the second family cobblestone lishencephaly was reported.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:52:37.372915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:52:19.239469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GNT2 were set to ",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:51:57.414145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:51:40.863810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GNT2 as Amber List (moderate evidence)",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:51:40.855589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:51:22.648602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:50:07.093850+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:49:42.478518+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GNT2 were set to ",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:49:11.975541+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:48:47.123973+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GNT2 as Amber List (moderate evidence)",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:48:47.113235+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:48:18.973813+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:43:58.044522+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:43:58.031397+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:43:54.259293+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from to Hydranencephaly with abnormal genitalia, MIM# 300215",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:43:31.110753+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:43:10.650632+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:42:44.615819+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARX as Amber List (moderate evidence)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:42:44.607458+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:42:22.055861+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 14722918; Phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:33:35.316896+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEK as ready",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2020-08-07T20:33:35.306493+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tek has been classified as Green List (High Evidence).",
"entity_name": "TEK",
"entity_type": "gene"
}
]
}