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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1139",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1137",
"results": [
{
"created": "2021-11-08T18:56:18.606857+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8550739, 11158067; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:54:53.672179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B3 as ready",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:54:53.658152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b3 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:54:44.780609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B3 were changed from to Pseudohermaphroditism, male, with gynecomastia MIM#264300",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:54:21.069631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B3 were set to ",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:54:02.048888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:53:39.212374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8550739, 11158067; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:51:08.703105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B3 as ready",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:51:08.690987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b3 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:50:23.474258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-11-08T18:50:23.464998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:55:59.472478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:39:29.105081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:39:29.093442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:03:16.737653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:02:53.304422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME to LIG4 syndrome, MIM#606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:02:39.129840+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:02:37.173719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-11-08T17:02:23.639307+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:55.284678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HR as ready",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:55.275487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hr has been classified as Red List (Low Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:48.131281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HR were changed from ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS to Atrichia with papular lesions MIM#209500",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:34.986053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HR as Red List (low evidence)",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:34.974856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hr has been classified as Red List (Low Evidence).",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:32.430420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: HPSE2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:59:08.074756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:58:49.753602+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPSE2 as ready",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:58:49.741831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpse2 has been classified as Green List (High Evidence).",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:58:43.326700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPSE2 were changed from UROFACIAL SYNDROME to Urofacial syndrome 1 MIM#236730",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:58:31.969293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPSE2 were set to ",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:57:45.491253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIFR as ready",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:57:45.481426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lifr has been classified as Green List (High Evidence).",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:57:41.514429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIFR were changed from Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:57:26.266416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIFR were set to ",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:57:16.412881+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIFR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:57:01.650194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:56:56.351599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:56:00.963243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXD13 as ready",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:56:00.934184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:55:56.372683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXD13 were changed from SYNDACTYLY TYPE 5; BRACHYDACTYLY-SYNDACTYLY SYNDROME; SYNPOLYDACTYLY 1; VACTERL ASSOCIATION; BRACHYDACTYLY TYPE D; BRACHYDACTYLY TYPE E to Brachydactyly, type D MIM#113200; Brachydactyly, type E MIM#113300; Syndactyly, type V MIM#186300; Synpolydactyly 1 MIM#186000",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:55:33.971120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:55:29.560222+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.97",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOXA1 were set to 16155570; 18412118; 32864817\nPhenotypes for gene: HOXA1 were set to thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536\nPenetrance for gene: HOXA1 were set to Complete\nReview for gene: HOXA1 was set to GREEN\ngene: HOXA1 was marked as current diagnostic\nAdded comment: At least 10 families reported.\r\n\r\n175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the native american variant.\r\n\r\nFeatures include:\r\nConotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base\r\n\r\nBiallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders. \nSources: Literature",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:54:48.831023+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA1 as ready",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:54:48.816772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:54:44.634429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA1 were changed from BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:54:31.488855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA1 were set to ",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:54:08.456920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: HOXA1.",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:53:57.201850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:53:28.165959+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "1.0",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Periventricular Grey Matter Heterotopia. Sources: Literature\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580\nPenetrance for gene: HNRNPK were set to Complete\nReview for gene: HNRNPK was set to GREEN\ngene: HNRNPK was marked as current diagnostic\nAdded comment: Caused by de novo variants.\r\n\r\nReview of >20 individuals in GeneReviews:\r\n- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.\r\n- Congenital heart disease is present in approximately 75% of individuals with AKS\r\n- Hydronephrosis is present in up to 75% of individuals\r\n- Craniosynostosis is present in approximately 1/3 of individuals with AKS.\r\n- More than half of individuals with AKS have scoliosis and congenital hip dysplasia\r\n- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common. \nSources: Literature",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:52:37.506369+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.138",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580\nPenetrance for gene: HNRNPK were set to Complete\nReview for gene: HNRNPK was set to GREEN\ngene: HNRNPK was marked as current diagnostic\nAdded comment: Caused by de novo variants.\r\n\r\nReview of >20 individuals in GeneReviews:\r\n- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.\r\n- Congenital heart disease is present in approximately 75% of individuals with AKS\r\n- Hydronephrosis is present in up to 75% of individuals\r\n- Craniosynostosis is present in approximately 1/3 of individuals with AKS.\r\n- More than half of individuals with AKS have scoliosis and congenital hip dysplasia\r\n- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common. \nSources: Literature",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:52:33.871060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHX4 as ready",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:52:33.861175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx4 has been classified as Green List (High Evidence).",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:52:29.219532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHX4 were changed from LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined, 4, MIM#262700",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:52:16.577100+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LHX4 were set to ",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:51:52.514962+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.144",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580\nPenetrance for gene: HNRNPK were set to Complete\nReview for gene: HNRNPK was set to GREEN\ngene: HNRNPK was marked as current diagnostic\nAdded comment: Caused by de novo variants.\r\n\r\nReview of >20 individuals in GeneReviews:\r\n- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.\r\n- Congenital heart disease is present in approximately 75% of individuals with AKS\r\n- Hydronephrosis is present in up to 75% of individuals\r\n- Craniosynostosis is present in approximately 1/3 of individuals with AKS.\r\n- More than half of individuals with AKS have scoliosis and congenital hip dysplasia\r\n- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common. \nSources: Literature",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:51:43.173786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:50:42.781274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPK as ready",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:50:42.770392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:50:38.911534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome, 616580 to Au-Kline syndrome, MIM#616580",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:50:06.357311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:49:24.861872+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:49:24.848921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:49:20.138732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:49:06.319121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:47:56.707389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1B as ready",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:47:56.696548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1b has been classified as Green List (High Evidence).",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:47:52.779579+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from RENAL CYSTS AND DIABETES SYNDROME to Renal cysts and diabetes syndrome, MIM# 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:47:41.162520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:47:29.958295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HNF1B.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:46:52.125124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMC3 as ready",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:46:52.112048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc3 has been classified as Green List (High Evidence).",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:46:47.679803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC3 were changed from OCCIPITAL CORTICAL MALFORMATIONS to Cortical malformations, occipital, MIM#614115",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:46:35.142972+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMC3 were set to ",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:46:21.284663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:46:13.565178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HES7: Rating: ; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:44:00.600553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH10 as ready",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:44:00.517992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh10 has been classified as Green List (High Evidence).",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:43:59.542865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from HIBCH DEFICIENCY to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:43:46.925957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIBCH were set to ",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:43:30.333457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:42:26.349973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HES7 as ready",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:42:26.339504+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hes7 has been classified as Green List (High Evidence).",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:42:20.364674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HES7 were set to ",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:41:17.503808+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH10 as Green List (high evidence)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:41:17.493710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh10 has been classified as Green List (High Evidence).",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:43.542188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH10 as ready",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:43.531969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh10 has been classified as Green List (High Evidence).",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:30.593763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH10 as Green List (high evidence)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:30.583665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh10 has been classified as Green List (High Evidence).",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:05.844991+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH10 as ready",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:05.833824+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh10 has been classified as Green List (High Evidence).",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:02.179978+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH10 as Green List (high evidence)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:40:02.165011+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh10 has been classified as Green List (High Evidence).",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:39:13.523003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA2 as ready",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:39:13.511575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Green List (High Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:39:09.651350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA2 were changed from Thalassemia, alpha-, 604131; Fetal hydrops to Thalassaemia, alpha-, 604131; Fetal hydrops",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:38:36.335327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA1 as ready",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:38:36.324362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Green List (High Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:38:31.506808+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA1 were changed from Thalassemia, alpha-, 604131; Fetal hydrops to Thalassaemia, alpha-, 604131; Fetal hydrops",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:37:48.090643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
}
]
}