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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1351",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1349",
"results": [
{
"created": "2021-04-14T21:36:24.164568+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:35:36.135111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX11 as ready",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:35:36.124487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:35:28.498676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:35:11.204582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX11 were set to ",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:34:53.289242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:34:34.212202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:34:05.975642+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX11 as ready",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:34:05.964875+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:33:53.087107+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:33:31.756553+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX11 were set to ",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:33:03.292205+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:32:36.309277+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX11: Changed phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T21:31:59.379719+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:57.104418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDIA6 as ready",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:57.094660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:48.454656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Amber List (moderate evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:48.446267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:29.121824+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDIA6 as ready",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:29.107066+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:23.297924+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Amber List (moderate evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:23.287221+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:22:18.059491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDIA6 was added\ngene: PDIA6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes\nReview for gene: PDIA6 was set to AMBER\nAdded comment: Amber in view of the good quality functional data.\r\n\r\n1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. \nSources: Literature",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:21:54.222576+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:19:17.782009+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDIA6 as ready",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:19:17.772124+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:19:08.541305+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Amber List (moderate evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:19:08.532282+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:18:36.932887+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:16:19.185325+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDIA6 as ready",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:16:19.174836+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:16:10.549403+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Amber List (moderate evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:16:10.540620+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:15:41.015810+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:10:06.063704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC1 as ready",
"entity_name": "EXOSC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:10:06.052432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc1 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:09:53.767542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC1 was added\ngene: EXOSC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC1 were set to 33463720\nPhenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia\nReview for gene: EXOSC1 was set to RED\nAdded comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively. \nSources: Literature",
"entity_name": "EXOSC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:08:22.613795+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC1 as ready",
"entity_name": "EXOSC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T20:08:22.603639+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc1 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:18:52.171142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7185",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: CACNA1H: Changed publications: 27729216, 25907736, 31126930, 16754686, 32571372",
"entity_name": "CACNA1H",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:18:03.131898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7185",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: None; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "CACNA1H",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:14:01.032295+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.141",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: None; Publications: 16754686, 32571372; Phenotypes: Autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "CACNA1H",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:13:49.412590+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:13:49.399857+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:13:32.454562+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:13:32.444124+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:12:50.455606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:12:25.883295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to 33244166; 32174975; 30006928; 27312080",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:12:02.328113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: Other",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:10:43.949456+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:10:43.939525+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:10:41.146086+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:10:27.190673+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to 12784307",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:09:33.222601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE4A as ready",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:09:33.212887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube4a has been classified as Green List (High Evidence).",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:09:24.572481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE4A as Green List (high evidence)",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:09:24.563246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube4a has been classified as Green List (High Evidence).",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:09:02.109707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE4A was added\ngene: UBE4A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE4A were set to 33420346\nPhenotypes for gene: UBE4A were set to Intellectual disability and global developmental delay\nReview for gene: UBE4A was set to GREEN\nAdded comment: 8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals. \nSources: Literature",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:07:32.709893+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPKAPK5 as ready",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:07:32.699972+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkapk5 has been classified as Green List (High Evidence).",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:07:19.176871+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPKAPK5 as Green List (high evidence)",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:07:19.166432+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkapk5 has been classified as Green List (High Evidence).",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:06:54.545408+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPKAPK5 was added\ngene: MAPKAPK5 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPKAPK5 were set to 3344202\nPhenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic\nReview for gene: MAPKAPK5 was set to GREEN\nAdded comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. \nSources: Literature",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:06:24.478597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPKAPK5 as ready",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:06:24.468582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkapk5 has been classified as Green List (High Evidence).",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:06:13.158207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPKAPK5 as Green List (high evidence)",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:06:13.148100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkapk5 has been classified as Green List (High Evidence).",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:05:32.365858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPKAPK5 was added\ngene: MAPKAPK5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPKAPK5 were set to 3344202\nPhenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic\nReview for gene: MAPKAPK5 was set to GREEN\nAdded comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.\r\n\r\nPatient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. \nSources: Literature",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:02:53.638619+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:02:26.216678+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAR1 were set to 25439727",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:02:07.254766+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:01:37.961957+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAR1 as Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:01:37.948749+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T18:01:11.598444+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33239752; Phenotypes: spastic paraparesis and bilateral cataracts; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:59:17.360297+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; 33239752",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:58:41.879851+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAR1 were set to 25439727",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:58:06.974835+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:57:40.960229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAR1 as Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:57:40.950859+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:57:40.228447+10:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.20",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "CACNA1H",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:57:07.379193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAR1: Added comment: PMID 33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.; Changed rating: GREEN; Changed publications: 25439727, 33239752; Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, spastic paraparesis and bilateral cataracts; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:39:51.608253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; spastic paraparesis and bilateral cataracts",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:39:29.169779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAR1 were set to 25439727",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:39:12.246730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:38:40.117034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAR1 as Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:38:40.102773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:38:20.822879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAR1: Added comment: PMID33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.; Changed rating: GREEN; Changed publications: 25439727, 33239752; Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, spastic paraparesis and bilateral cataracts; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:37:27.890720+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAR1 as ready",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:37:27.879578+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:37:24.805491+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:35:49.297319+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAR1 were set to PMID: 33239752",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:35:23.637385+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:34:58.781523+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:32:39.204976+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAR1 as ready",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:32:39.196873+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note bi-allelic disorder Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#\t616154 also has spasticity as a feature, in addition to ID and cataracts.",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:32:39.162084+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:32:36.981823+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#\t616154",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:32:31.258938+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:30:26.715808+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIA3 as ready",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:30:26.704855+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria3 has been classified as Green List (High Evidence).",
"entity_name": "GRIA3",
"entity_type": "gene"
}
]
}