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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1116",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1114",
"results": [
{
"created": "2021-11-26T20:04:57.762257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPIB were set to ",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T20:04:38.745993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPIB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T20:04:19.777439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T20:03:28.866589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIB as ready",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T20:03:28.857550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppib has been classified as Green List (High Evidence).",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T20:03:24.671070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX 259440 to Osteogenesis imperfecta, type IX, MIM# 259440",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T20:03:10.827267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPIB were set to ",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:53:26.350730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.737",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association with lethal or severe phenotype.\r\n\r\nPMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.\r\n\r\nPMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.; to: Well established gene-disease association with lethal or severe OI phenotype.\r\n\r\nPMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.\r\n\r\nPMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:53:05.509342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.737",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:10:58.059193+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:10:58.048326+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:10:54.418922+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BMPR1B as Amber List (moderate evidence)",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:10:54.408511+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-26T16:10:44.352770+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: BMPR1B were set to 34794894; 15805157; 28505269; 31769494\nPhenotypes for gene: BMPR1B were set to Acromesomelic dysplasia 3 MIM#609441; primary ovarian insufficiency\nReview for gene: BMPR1B was set to AMBER\nAdded comment: A homozygous truncating variant in a syndromic case with hypergonadic hypogonadism as a feature of the condition. Two unrelated POI cases with a heterozygous missense variant (p.Arg254His and p.Phe272Leu). In vitro functional assay data demonstrating p.Phe272Leu alters BMP signalling. \nSources: Literature",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:34:29.545488+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TP63 as ready",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:34:29.533077+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:34:24.976871+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TP63 as Green List (high evidence)",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:34:24.967551+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:34:17.522074+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nSV/CNV tags were added to gene: TP63.\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TP63 were set to 34794894; 17609671; 30924587; 30689869; 32067224\nPhenotypes for gene: TP63 were set to Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292\nReview for gene: TP63 was set to GREEN\nAdded comment: At least 6 cases with nonsyndromic or syndromic POI with CNVs or SNV/small indel truncating variants. \nSources: Literature",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:19:15.665392+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PREPL as ready",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:19:15.654750+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prepl has been classified as Green List (High Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:19:11.911548+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PREPL as Green List (high evidence)",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:19:11.902476+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prepl has been classified as Green List (High Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2021-11-26T15:19:06.087808+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PREPL were set to 34794894; 28726805; 30924587; 32218803\nPhenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome; premature ovarian failure\nReview for gene: PREPL was set to GREEN\nAdded comment: At least 5 unrelated cases reported with hypergonadotrophic hypogonadism or absence of the ovaries as a feature of the condition. \nSources: Literature",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:59:49.823508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9900",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLR3H as ready",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:59:49.812462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9900",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr3h has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:57:27.104732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9900",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLR3H as Amber List (moderate evidence)",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:57:27.093638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9900",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr3h has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:56:59.803349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9899",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3H was added\ngene: POLR3H was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3H were set to 34794894; 30830215\nPhenotypes for gene: POLR3H were set to Primary ovarian insufficiency\nReview for gene: POLR3H was set to AMBER\nAdded comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation. \nSources: Literature",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:54:53.737231+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLR3H as ready",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:54:53.728203+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr3h has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:54:50.278784+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLR3H as Amber List (moderate evidence)",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:54:50.269425+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr3h has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:54:43.124045+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3H was added\ngene: POLR3H was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3H were set to 34794894; 30830215\nPhenotypes for gene: POLR3H were set to Primary ovarian insufficiency\nReview for gene: POLR3H was set to AMBER\nAdded comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation. \nSources: Literature",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:39:13.894701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9898",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLR2C as ready",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:39:13.885214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9898",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr2c has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:37:49.881663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9898",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLR2C as Amber List (moderate evidence)",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:37:49.868761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9898",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr2c has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:37:25.185017+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLR2C as ready",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:37:25.175014+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr2c has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:37:06.104922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9897",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR2C was added\ngene: POLR2C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2C were set to 34794894; 29367954\nPhenotypes for gene: POLR2C were set to Primary ovarian insufficiency\nReview for gene: POLR2C was set to AMBER\nAdded comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.\r\nTwo missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1). \nSources: Literature",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:35:21.523035+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLR2C as Amber List (moderate evidence)",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:35:21.509356+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr2c has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T14:35:12.762032+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR2C was added\ngene: POLR2C was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2C were set to 34794894; 29367954\nPhenotypes for gene: POLR2C were set to Primary ovarian insufficiency\nReview for gene: POLR2C was set to AMBER\nAdded comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.\r\nTwo missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1). \nSources: Literature",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:25:49.735269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELAC2 as ready",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:25:49.724158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:25:44.575316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:25:16.483201+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELAC2 were set to ",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:24:41.271276+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:24:06.495261+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:23:13.170854+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELAC2 as ready",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:23:13.158344+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:23:07.167076+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:22:21.356816+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELAC2 were set to ",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:21:41.349052+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:21:08.985719+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:20:28.782205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELAC2 as ready",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:20:28.772391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:20:20.408935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:19:55.347493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELAC2 were set to ",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:19:36.102077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:19:18.929811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:18:10.209844+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELAC2 as ready",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:18:10.194291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:18:04.383187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELAC2 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY to Combined oxidative phosphorylation deficiency 17, MIM#615440",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T13:17:46.384094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELAC2 were set to ",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:52:54.974517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9893",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KHDRBS1 as ready",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:52:54.964758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9893",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: khdrbs1 has been classified as Green List (High Evidence).",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:49:18.886993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9893",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KHDRBS1 as Green List (high evidence)",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:49:18.877430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9893",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: khdrbs1 has been classified as Green List (High Evidence).",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:48:54.066935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9892",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KHDRBS1 was added\ngene: KHDRBS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015\nPhenotypes for gene: KHDRBS1 were set to Premature ovarian failure\nReview for gene: KHDRBS1 was set to GREEN\nAdded comment: 4 cases in 3 unrelated families and a supporting mouse model\r\nPMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.\r\nSCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)\r\nPMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.\r\nPMID: 20881015 - supporting null mouse model. Female mice were subfertile. \nSources: Literature",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:42:16.933457+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KHDRBS1 as ready",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:42:16.920734+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: khdrbs1 has been classified as Green List (High Evidence).",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:42:12.769086+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KHDRBS1 as Green List (high evidence)",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:42:12.755973+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: khdrbs1 has been classified as Green List (High Evidence).",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:42:00.810337+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KHDRBS1 was added\ngene: KHDRBS1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015\nPhenotypes for gene: KHDRBS1 were set to Premature ovarian failure\nReview for gene: KHDRBS1 was set to GREEN\nAdded comment: 4 cases in 3 unrelated families and a supporting mouse model\r\nPMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.\r\nSCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)\r\nPMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count. \r\nPMID: 20881015 - supporting null mouse model. Female mice were subfertile. \nSources: Literature",
"entity_name": "KHDRBS1",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:14:20.407422+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:14:20.395730+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:14:11.475626+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DCAF17 as Green List (high evidence)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:14:11.463821+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-11-26T10:13:59.345000+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 34590781; 34794894; 19026396\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome MIM#241080\nReview for gene: DCAF17 was set to GREEN\ngene: DCAF17 was marked as current diagnostic\nAdded comment: Primary hypogonadism (including primary ovarian failure) is a common feature of the condition. \nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:59:39.751356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.735",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17 MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:59:14.663563+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:59:14.653637+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Red List (Low Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:59:05.711408+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR1 were set to 34794894; 27426988; 16272061; 2248288; 17262136\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome MIM#230740\nReview for gene: ANTXR1 was set to RED\nAdded comment: Premature ovarian insufficiency has been reported in at least 5 cases with GAPO syndrome from 4 families, but only one individual had been genetically confirmed to have an ANTXR1 pathogenic variant. \nSources: Literature",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:48:15.443614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL4B as ready",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:48:15.432719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul4b has been classified as Green List (High Evidence).",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:30:27.452336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL4B were changed from to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:30:00.296053+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL4B were set to ",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:29:27.840850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUL4B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:28:58.542518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:27:46.595433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL4B as ready",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:27:46.582273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul4b has been classified as Green List (High Evidence).",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:27:38.566578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL4B were changed from to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:27:14.189279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL4B were set to ",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:26:47.034269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUL4B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:26:28.345601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:25:29.813428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL4B as ready",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:25:29.796109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul4b has been classified as Green List (High Evidence).",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2021-11-26T09:25:25.953638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL4B were changed from MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354",
"entity_name": "CUL4B",
"entity_type": "gene"
}
]
}