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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1077",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1075",
"results": [
{
"created": "2021-12-20T16:34:23.795851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr5a1 has been classified as Green List (High Evidence).",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:34:23.451516+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200 to 46XY sex reversal 2, dosage-sensitive MIM#300018",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:34:06.730533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR0B1 were set to ",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:33:58.690010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR5A1 were changed from SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3 to 46, XX sex reversal 4 (MIM#617480); 46XY sex reversal 3 (MIM#612965)",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:33:40.832912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR5A1 were set to ",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:33:32.718497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:32:45.948872+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR0B1 as Amber List (moderate evidence)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:32:45.937982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:32:35.284188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NR0B1.",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:17:21.994416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10312",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:16:26.859638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117, 33020172; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:11:01.280676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663634; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T16:05:20.936032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259053, 33097077; Phenotypes: Polycystic kidney disease 3 MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:59:23.992249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 27789573, 33325057; Phenotypes: Developmental and epileptic encephalopathy 92 MIM#617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:46:07.815586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZNF699 was added\ngene: ZNF699 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF699 were set to 33875846\nPhenotypes for gene: ZNF699 were set to DEGCAGS syndrome - #619488\nReview for gene: ZNF699 was set to GREEN\nAdded comment: DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding from infancy. \r\n\r\nAffected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. \r\n\r\nAdditional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. \nSources: Literature, Expert list",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:41:46.931553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZMYM2 was added\ngene: ZMYM2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMYM2 were set to 32891193\nPhenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522\nReview for gene: ZMYM2 was set to GREEN\nAdded comment: Approximately half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects \nSources: Expert list, Literature",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:38:05.315074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UBR7 was added\ngene: UBR7 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Li-Campeau syndrome - MIM#619189\nReview for gene: UBR7 was set to GREEN\nAdded comment: Biallalic variants associated with Li-Campeau syndrome - identified in 7 affected individuals from 6 unrelated families. Phenotypic features include cardiac defects (5/7 - VSD, ASD, PDA, PFO) \r\n\r\nOther phenotypic features include: short stature (ht <3rd centile), developmental delay, urogenital anomalies (cryptorchidism, small penis); seizures; hypotonia; hypothyroidism; ptosis; dysmorphic features \nSources: Literature, Expert list",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:32:30.934752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TLL1 was added\ngene: TLL1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TLL1 were set to 18830233; 30538173; 27418595; 31570783\nPhenotypes for gene: TLL1 were set to Atrial septal defect 6 - MIM#613087; congenital heart disease\nReview for gene: TLL1 was set to GREEN\nAdded comment: Biallelic variants embryonically lethal in mouse model from cardiac failure with associated cardiac defects. Heterozygous missense variants detected in patients from an ASD cohort with supportive follow-up functional studies \nSources: Expert list, Literature",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:28:01.531428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBX2 was added\ngene: TBX2 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to 29726930\nPhenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Congenital heart disease; skeletal abnormalities; thymus aplasia\nReview for gene: TBX2 was set to GREEN\nAdded comment: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted.\r\n\r\nOther associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism). \nSources: Literature, Expert list",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:27:04.253124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28225384; Phenotypes: STAR syndrome MIM#300707; 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": "FAM58A",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:20:02.269168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: STK4 was added\ngene: STK4 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854\nPhenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868\nReview for gene: STK4 was set to GREEN\nAdded comment: Biallelic variants identified in 12 affected individuals from 5 unrelated families with two mouse model studies. Immunodeficiencyphenotype but cardiac malformations that are potentially detectable antenatally also a typical feature. \nSources: Literature, Expert list",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:14:54.982936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SPRED2 was added\ngene: SPRED2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to 34626534\nPhenotypes for gene: SPRED2 were set to cardiac defects; skeletal anomalies\nReview for gene: SPRED2 was set to GREEN\nAdded comment: Homozygous variants identified in four subjects from three families with a clinical phenotype that included developmental delay, ID, cardiac defects, short stature, skeletal anomalies and dysmorphic features. Cardiac defects and skeletal anomalies potentially ascertainable antenatally. \nSources: Expert list, Literature",
"entity_name": "SPRED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:11:03.802387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SPEN was added\ngene: SPEN was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPEN were set to 33596411\nPhenotypes for gene: SPEN were set to Radio-Tartaglia syndrome - MIM#619312\nReview for gene: SPEN was set to GREEN\nAdded comment: Radio et al. (2021) reported heterozygous SPEN variants in 34 individuals from 33 unrelated families with had global developmental delay, ID, behavioural issues and dysmorphic features. Other features included hypotonia, gait imbalance, pyramidal signs and seizures. \r\n\r\nFindings potentially ascertainable antenatally:\r\n- Brain imaging abnormalities include polymicrogyria, heterotopia, cerebellar atrophy, periventricular white matter defects, agenesis of the corpus callosum, and tethered cord.\r\n- Congenital heart defects also present in a significant proportion. \nSources: Expert list, Literature",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-12-20T15:03:39.650286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SMAD6 was added\ngene: SMAD6 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD6 were set to 22275001; 31138930; 27606499; 32499606\nPhenotypes for gene: SMAD6 were set to Aortic valve disease 2 - MIM#614823; {Craniosynostosis 7, susceptibility to} - MIM#617439; {Radioulnar synostosis, nonsyndromic} - #179300\nReview for gene: SMAD6 was set to GREEN\nAdded comment: Heterozygous SMAD6 variants have been reported with:\r\ncongenital cardiovascular malformations including valvular disease\r\nradioulnar synostosis \r\ncraniosynostosis (penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function) \nSources: Literature, Expert list",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:58:19.656326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 20825432, 17924334; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:52:58.633237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ROBO4 was added\ngene: ROBO4 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROBO4 were set to 30455415\nPhenotypes for gene: ROBO4 were set to Aortic valve disease 3- MIM#618496\nReview for gene: ROBO4 was set to GREEN\nAdded comment: Heterozygous variants identified in individuals from 2 unrelated families with bicuspid aortic valve and aortic dilatation. Supportive functional data. Incomplete penetrance also a feature. \nSources: Literature, Expert list",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:42:00.462645+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PRKACB was added\ngene: PRKACB was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKACB were set to 33058759\nPhenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2 - MIM#619143\nReview for gene: PRKACB was set to GREEN\nAdded comment: Heterozygous variants reported in 4 unrelated probands with Cardioacrofacial dysplasia-2 (CAFD2) - characterized by congenital cardiac defects (atrium or atrioventricular septal defect mainly); limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly); and dysmorphic facial features. Developmental delay of variable severity has also been observed \nSources: Literature, Expert list",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:38:34.428102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PRKACA was added\ngene: PRKACA was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKACA were set to 33058759\nPhenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1-MIM#619142\nReview for gene: PRKACA was set to GREEN\nAdded comment: Heterozygous variants were identified in affected individuals from 3 unrelated families and associated with cardioacrofacial dysplasia-1 (CAFD1). Phenotype includes congenital cardiac defects (mainly atrium or atrioventricular septal defect), limb anomalies (short limbs, brachydactyly, postaxial polydactyly) and dysmorphic facial features. Fetal phenotype also reported. \nSources: Expert list, Literature",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:37:01.477203+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: FAM20A: Rating: RED; Mode of pathogenicity: None; Publications: 23468644, 18597613, 21549343, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM20A",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:30:50.521040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23773660, 21937992, 32499722, 28181389; Phenotypes: Mental retardation, autosomal recessive 27 (MIM#614340), autosomal recessive intellectual disability (MIM#614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:28:31.974705+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PRDM6 was added\ngene: PRDM6 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM6 were set to 27181681\nPhenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 - MIM#617039\nReview for gene: PRDM6 was set to GREEN\nAdded comment: In 3 unrelated families segregating autosomal dominant nonsyndromic patent ductus arteriosus - usually diagnosed in the neonate \nSources: Literature, Expert list",
"entity_name": "PRDM6",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:20:27.218352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:19:11.666660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:19:03.069491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: NKX2-6: Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations, persistent truncus arteriosus and athymia; Changed phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T14:17:30.489016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NKX2-6 was added\ngene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NKX2-6 were set to 24421281; 15649947\nReview for gene: NKX2-6 was set to GREEN\nAdded comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations and athymia \nSources: Literature, Expert list",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T13:03:57.935410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: 21188418; Phenotypes: Woolly hair, autosomal dominant (MIM#194300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2021-12-20T13:01:48.339113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15759101; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:55:18.116662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MYBPC3 was added\ngene: MYBPC3 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC3 were set to 16679492; 17937428; 19858127\nPhenotypes for gene: MYBPC3 were set to Neonatal hypertrophic cardiomyopathy; Cardiomyopathy, hypertrophic, 4 - MIM#115197\nReview for gene: MYBPC3 was set to GREEN\nAdded comment: 16679492 - two unrelated neonates with severe hypertrophic cardiomyopathy caused by compound heterozygous truncating mutations in the MYBPC3 gene (no antenatal findings reported)\r\n\r\n17937428 - 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene, diagnosed in the first 3 weeks of life, surviving individuals required cardiac transplant before age 1\r\n\r\n19858127 - infant with fatal cardiomyopathy and skeletal myopathy due to a homozygous mutation, p.R943X \nSources: Literature, Expert list",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:40:39.206009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:37:59.972385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MMP15 was added\ngene: MMP15 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP15 were set to 33875846\nPhenotypes for gene: MMP15 were set to Congenital heart disease\nReview for gene: MMP15 was set to AMBER\nAdded comment: Gene reviewed Dec 2021 - 3 individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease. \nSources: Literature, Expert list",
"entity_name": "MMP15",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:35:14.486168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MIB1 was added\ngene: MIB1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIB1 were set to 33057194\nPhenotypes for gene: MIB1 were set to Congenital heart disease\nReview for gene: MIB1 was set to AMBER\nAdded comment: Last reviewed March and Dec 2021 - no additional evidence\r\n\r\nLi 2018 (PMID: 30322850):\r\n- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).\r\n- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.\r\n- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.\r\n\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Expert list, Literature",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:31:28.406431+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MESP1 was added\ngene: MESP1 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203\nPhenotypes for gene: MESP1 were set to Congenital heart disease\nReview for gene: MESP1 was set to AMBER\nAdded comment: Gene last reviewed April 2021 - Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development.\r\n\r\nNo additional published evidence. \nSources: Literature, Expert list",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:27:03.053866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 26598328; 32869452; 26491070\nPhenotypes for gene: HSPA9 were set to Even-plus syndrome - MIM#616854; Anemia, sideroblastic, 4- #182170\nReview for gene: HSPA9 was set to GREEN\nAdded comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.\r\n2/5 with developmental delay and abnormalities of the corpus callosum\r\n4/5 with congenital heart disease\r\n\r\nBiallelic variants also associated with congenital sideroblastic anaemia. Some patients with a a heterozygous LoF variant have developed congenital sideroblastic anaemia if a particular SNP is presence in trans correlating with reduced mRNA expression (pseudodominant pattern of inheritance) \nSources: Literature, Expert list",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:19:31.753157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HAND2 was added\ngene: HAND2 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: HAND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HAND2 were set to 26865696; 32134193; 26676105\nPhenotypes for gene: HAND2 were set to Congenital heart defects\nReview for gene: HAND2 was set to GREEN\nAdded comment: Heterozygous LoF variants associated with congenital heart defects reported in at least 3 unrelated families. \nSources: Literature, Expert list",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:12:09.281421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HAND1 was added\ngene: HAND1 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: HAND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141\nPhenotypes for gene: HAND1 were set to Congenital heart defects\nReview for gene: HAND1 was set to GREEN\nAdded comment: Testing of hypoplastic human hearts (18276607) and those with septatation defects (19586923) demonstrated impairment in HAND1 function\r\n\r\nGermline LoF variants associated with congenital heart defects \nSources: Literature, Expert list",
"entity_name": "HAND1",
"entity_type": "gene"
},
{
"created": "2021-12-20T12:03:03.564063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: GATA5 was added\ngene: GATA5 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: GATA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282\nPhenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5 - #617912\nReview for gene: GATA5 was set to GREEN\nAdded comment: Heterozygous variants asociated with multiple types of congenital heart defects (septal defects, ToF). Autosomal recessive inheritance also reported in a patient with double outflow right ventricle in a consanguineous Lebanese family \nSources: Literature, Expert list",
"entity_name": "GATA5",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:47:32.505871+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOXH1 was added\ngene: FOXH1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXH1 were set to 19933292; 18538293; 19525021\nPhenotypes for gene: FOXH1 were set to Congenital heart disease; holoprosencephaly\nReview for gene: FOXH1 was set to GREEN\nAdded comment: Associated with congenital heart defects (including septal defects, tetralogy of fallot and transposition of the great arteries) as well as holoprosencephaly with supportive functional studies. \nSources: Expert list, Literature",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:35:21.899579+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBRSL1 were set to 32424618; 34805182\nPhenotypes for gene: FBRSL1 were set to Congenital malformations; congenital heart defect\nReview for gene: FBRSL1 was set to GREEN\nAdded comment: Associated with novel malformation and intellectual disability syndrome. Three unrelated children with de novo PTCs that escape NMD, with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations - 2/3 had heart defects (ASD, VSD), cleft palate and hearing impairement. Supported by Xenopus oocyte functional studies \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:30:42.680615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKR1D1 as ready",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:30:42.669862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1d1 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:30:38.822837+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1D1 were changed from BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 to Bile acid synthesis defect, congenital, 2, MIM# 235555",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:30:27.114241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKR1D1 were set to ",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:30:11.790690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKR1D1: Rating: RED; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:28:46.210229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK2 as ready",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:28:46.200392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Red List (Low Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:28:42.302573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from RETICULAR DYSGENESIS to Reticular dysgenesis, MIM# 267500; MONDO:0009973",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:28:29.957785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to ",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:28:16.054421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AK2: Rating: RED; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:27:01.790852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:27:01.762845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Red List (Low Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:26:57.469372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:26:40.135212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:25:35.366663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1464",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CITED2 was added\ngene: CITED2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CITED2 were set to 11694877; 16287139\nPhenotypes for gene: CITED2 were set to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431; Congenital heart disease\nReview for gene: CITED2 was set to GREEN\nAdded comment: Variants associated with congenital heart defects. Supportive functional evidence and animal models \nSources: Literature",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:21:03.145563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1464",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR2 were set to 31382961\nPhenotypes for gene: BMPR2 were set to Persistent pulmonary hypertension of the neonate; Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600; Pulmonary venoocclusive disease 1-#265450\nPenetrance for gene: BMPR2 were set to Incomplete\nReview for gene: BMPR2 was set to AMBER\nAdded comment: BMPR2 gene variants known to be associated with sporadic/familial pulmonary hypertension and pulmonary venoocclusive disease. Fetal phenotype not reported but known to be associated with persistent pulmonary hypertension of the neonate - critical condition diagnosed in the early postnatal period. \nSources: Literature",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:19:01.994423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS2 as ready",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:19:01.983834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:18:43.131164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:18:19.031782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTS2 were set to ",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:17:53.068612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:17:33.950252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:14:13.893747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIPL1 as ready",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:14:13.877749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aipl1 has been classified as Red List (Low Evidence).",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:14:10.113599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIPL1 were changed from LEBER CONGENITAL AMAUROSIS 4 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:13:57.634279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIPL1 were set to ",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:13:49.954996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:13:35.734334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIPL1 were changed from Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:13:14.650294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIPL1: Rating: RED; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:12:44.101750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AIPL1: Changed phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:11:36.993668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT as ready",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:11:36.979957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt has been classified as Red List (Low Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:10:41.072155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGXT were changed from HYPEROXALURIA, PRIMARY, TYPE 1 to Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:10:09.504111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGXT were set to ",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:09:52.641790+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:09:52.632670+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:09:48.483710+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA2 as Green List (high evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:09:48.474868+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:08:54.621120+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA2 were set to 21670465; 21242295; 21892158\nPhenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540\nReview for gene: GATA2 was set to GREEN\nAdded comment: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.\r\n\r\nBone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.\r\n\r\nLess common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome': gene included in this panel for this association (likely represents continuum rather than distinct disorder).\r\n\r\nOver 20 unrelated individuals reported. \nSources: Expert Review",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:06:50.981015+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:05:44.725789+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T11:00:19.193820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGXT: Rating: RED; Mode of pathogenicity: None; Publications: 2039493, 19479957; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:58:37.128053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGRN as ready",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:58:37.109604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrn has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:58:32.440379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence (FADS)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:58:19.206958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGRN as Amber List (moderate evidence)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:58:19.196646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrn has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:57:20.218742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPAT2 as ready",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:57:20.204297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agpat2 has been classified as Red List (Low Evidence).",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:57:14.987274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPAT2 were changed from Lipodystrophy 608594 to Lipodystrophy, congenital generalized, type 1, MIM# 608594",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:57:01.213673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPAT2 were set to 22902344",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:56:47.037816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
}
]
}