HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1140",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1138",
"results": [
{
"created": "2021-11-08T16:37:48.080684+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:37:43.698379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHA were changed from LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY to LCHAD deficiency, MIM# 609016",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:37:25.545346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:36:15.368755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:36:15.358850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:36:10.890507+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAAO were set to 28792876",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:35:07.430971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L2HGDH as ready",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:35:07.421244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Red List (Low Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:35:03.854530+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L2HGDH were changed from L-2-HYDROXYGLUTARIC ACIDURIA to L-2-hydroxyglutaric aciduria, MIM#236792",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:34:50.837746+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L2HGDH were set to ",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:34:39.610191+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: L2HGDH as Red List (low evidence)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:34:39.600889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Red List (Low Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:27:25.221658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.215",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2021-11-08T16:10:12.248694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.215",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:50:34.350079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C9orf3 as ready",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:50:34.338540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c9orf3 has been classified as Green List (High Evidence).",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:49:56.649801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C9orf3 as Green List (high evidence)",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:49:56.638302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c9orf3 has been classified as Green List (High Evidence).",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:49:41.737778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C9orf3 was added\ngene: C9orf3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C9orf3 were set to 34596301\nPhenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565\nReview for gene: C9orf3 was set to GREEN\nAdded comment: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family.\r\n\r\n5 individuals from 4 unrelated families reported.\r\n\r\nHGNC approved name is AOPEP. \nSources: Literature",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:24:51.166560+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Green List (high evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:24:51.156565+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:24:22.302860+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP2B as ready",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:24:22.290757+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Red List (Low Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:24:15.527838+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOP2B was added\ngene: TOP2B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOP2B were set to 31409799\nPhenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296\nReview for gene: TOP2B was set to GREEN\nAdded comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model. \nSources: Literature",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:22:55.309075+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP2B as ready",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:22:55.298891+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:22:49.106447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Green List (high evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:22:49.091795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:22:36.666294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOP2B was added\ngene: TOP2B was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOP2B were set to 31409799\nPhenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296\nReview for gene: TOP2B was set to GREEN\nAdded comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model. \nSources: Expert Review",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:21:10.193662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability to Autosomal dominant deafness; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Intellectual disability",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:20:38.849033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Changed phenotypes: Autosomal dominant deafness, B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Intellectual disability",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:19:42.405024+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP2B were changed from Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:19:09.836903+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:19:01.092340+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:15:44.197097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.213",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:10:36.536035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:10:36.524644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:10:30.780404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCN2A were changed from NONSPECIFIC SEVERE ID; INFANTILE EPILEPTIC ENCEPHALOPATHY; BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES to Developmental and epileptic encephalopathy 11, MIM#182390",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:10:13.373609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.212",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SCN2A were set to 30712878",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:09:49.295820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.211",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28254201; Phenotypes: Developmental and epileptic encephalopathy 11, MIM#182390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:01:21.679527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:01:21.664202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:01:18.136232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 to Alpha-thalassemia/mental retardation syndrome, MIM# 301040",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:01:05.000557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATRX were set to ",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:00:50.752716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The hallmark of this condition is hypotonia. Contractures have been described but are not a key/prominent feature.; to: Multiple congenital anomalies reported in association with this condition.",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-11-08T15:00:13.068320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed rating: GREEN",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:59:40.316644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7A as ready",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:59:40.307676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:59:35.800657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7A were changed from SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME to Menkes disease, MIM# 309400",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:59:19.636642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:58:18.778312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:58:18.767703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:58:14.554479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome 219200 to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:57:48.542926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6V0A2 were set to ",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:57:35.269319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Defective glycosylation is part of the phenotype. More than 20 unrelated families reported.; to: More than 20 unrelated families reported. IUGR and skeletal anomalies are a feature.",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:56:37.097867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATIC as ready",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:56:37.087679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atic has been classified as Green List (High Evidence).",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:56:18.436272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATIC were changed from AICA-RIBOSURIA to AICA-ribosiduria due to ATIC deficiency, MIM# 608688",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:56:07.364382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATIC were set to 15114530; 32557644",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:56:06.924568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATIC were set to ",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:34.222729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATAD3A as ready",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:34.213153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Green List (High Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:30.581702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:26.264872+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.203",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SC5D as ready",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:26.254888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.203",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sc5d has been classified as Green List (High Evidence).",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:18.751545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.203",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SC5D were changed from LATHOSTEROLOSIS to Lathosterolosis, MIM#607330",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:14.330663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:55:02.357349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.201",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SC5D were set to ",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:54:31.257336+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.200",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189593, 17853487; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:54:28.525779+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL1 as ready",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:54:28.517086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:54:22.199476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:54:00.831851+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL1 were set to ",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:53:33.807432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:53:06.580595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906, 21706002; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:52:23.624761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL1 as ready",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:52:23.613638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:52:09.388474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:51:50.011589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL1 were set to ",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:51:31.994584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:51:13.486271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints -- many of these features would be identifiable antenatally.; to: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.\r\n\r\nMultiple individuals reported.",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:50:57.488242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906, 21706002; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:50:00.767832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL1 as ready",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:50:00.741976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:49:38.813894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASXL1 were changed from BOHRING-OPITZ SYNDROME to Bohring-Opitz syndrome , MIM#605039",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:49:25.499456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL1 were set to ",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:49:14.305329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASXL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:49:02.062740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASXL1: Changed publications: 29446906, 21706002",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:48:53.391878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Colobomas reported.; to: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints -- many of these features would be identifiable antenatally.",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:47:26.922955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:47:26.904465+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Red List (Low Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:47:22.769883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASS1 were changed from CITRULLINEMIA TYPE I to Citrullinemia, MIM# 215700",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:47:04.987987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASS1 as Red List (low evidence)",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:47:04.975231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Red List (Low Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:46:52.261186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, MIM# 215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:44:57.457141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:44:57.444150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:44:42.287827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, MIM#608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:44:28.828255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:44:03.747346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
}
]
}