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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1500",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1498",
"results": [
{
"created": "2020-11-24T17:05:07.361644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5407",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); 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": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-24T08:31:58.615187+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.185",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-23T15:50:04.238632+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.185",
"user_name": "Sarah Donoghue",
"item_type": "entity",
"text": "reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30587846, PMID: 31925597,; Phenotypes: hypotonia, global developmental delay, feeding problems, seizures, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front. MRI may be normal, but can have generalised atrophy. Transferrin isoforms may be normal - look at urine Gl4 (tetrasaccharide) increased in cases; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-23T15:41:52.971830+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.185",
"user_name": "Sarah Donoghue",
"item_type": "entity",
"text": "reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29550355; Phenotypes: alacrima, movement disorder, microcephaly, abnormal LFT's; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-11-23T14:30:13.966093+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255\nReview for gene: GATA3 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-11-23T14:28:04.998252+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: FOXI1 was added\ngene: FOXI1 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis\nReview for gene: FOXI1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-11-23T14:25:04.979813+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: EPS8L2 was added\ngene: EPS8L2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPS8L2 were set to Deafness, MIM#617637\nReview for gene: EPS8L2 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2020-11-23T14:23:51.941880+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: EPS8 was added\ngene: EPS8 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPS8 were set to deafness MIM#600205\nReview for gene: EPS8 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2020-11-23T13:11:32.530616+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-23T13:10:40.244336+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-11-23T13:10:08.684217+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-11-23T13:08:18.252540+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-23T13:03:31.459023+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-11-23T12:57:13.126321+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-23T12:48:06.354083+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: DMXL2 was added\ngene: DMXL2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663\nReview for gene: DMXL2 was set to GREEN\nAdded comment: EE and deafness \nSources: Expert list",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-11-23T12:20:14.162275+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.906",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27352968, 32162308; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD, Genetic generalized epilepsy (GGE), Photosensitive generalized and occipital epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-23T11:07:35.420251+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.28",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28602422; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:12:13.530332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: M1AP were changed from non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility to Spermatogenic failure 48, MIM# 619108; non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:11:48.204003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: M1AP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 48, MIM# 619108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "M1AP",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:08:17.755048+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:08:00.729250+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:07:41.504598+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:07:01.517991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:06:29.304489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM#\t619099; Intellectual disability; neuropathy",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-11-22T08:05:51.389008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:13:59.090436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHYKPL as ready",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:13:59.082065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phykpl has been classified as Red List (Low Evidence).",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:11:41.040623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHYKPL were changed from to [?Phosphohydroxylysinuria] 615011",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:10:40.782498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHYKPL were set to ",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:10:11.917536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHYKPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:09:53.140165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHYKPL as Red List (low evidence)",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T18:09:53.128867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phykpl has been classified as Red List (Low Evidence).",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:33:06.287554+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.48",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:20:15.667705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5401",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTCL1 as Green List (high evidence)",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:20:15.656893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5401",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtcl1 has been classified as Green List (High Evidence).",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:19:50.716445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5400",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: MTCL1: Added comment: A new report of another case with a homozygous loss of function variant and a similar phenotype to the previously reported early onset homozygous Polish case (2 independent cases), and the supporting null mouse model.; Changed rating: GREEN; Changed publications: 30548255, 28283581, 32961396; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:17:16.035166+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTCL1 as Green List (high evidence)",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:17:16.020720+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtcl1 has been classified as Green List (High Evidence).",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:16:51.029731+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: MTCL1: Added comment: A new report of another case with a homozygous loss of function variant and a similar phenotype to the previously reported early onset homozygous Polish case (2 independent cases), and the supporting null mouse model.; Changed rating: GREEN; Changed publications: 30548255, 28283581, 32961396; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-11-20T17:15:38.968083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5400",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PHYKPL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23242558; Phenotypes: [?Phosphohydroxylysinuria] 615011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHYKPL",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:27:21.208388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLE as ready",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:27:21.200432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:27:13.744891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLE were changed from to FILS syndrome, 615139; IMAGE-I syndrome, 618336; {Colorectal cancer, susceptibility to, 12}, 615083",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:26:51.920864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLE were set to ",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:26:30.855553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: POLE was changed from to Other",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:26:10.688083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:25:52.789363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: POLE.",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:24:11.755595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:24:11.743082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Green List (High Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:23:48.684362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, 300804; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200; Retinitis pigmentosa 23, 300424",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:23:16.867698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:22:56.403688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to Other",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:21:34.042436+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A3 as ready",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:21:34.029604+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:21:27.156746+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL9A3 as Green List (high evidence)",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:21:27.143672+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:21:04.291530+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP78 as ready",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:21:04.276725+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep78 has been classified as Green List (High Evidence).",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:20:56.220191+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP78 as Green List (high evidence)",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:20:56.208676+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep78 has been classified as Green List (High Evidence).",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:19:30.786217+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC14A as ready",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:19:30.777064+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc14a has been classified as Green List (High Evidence).",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:19:23.382614+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC14A as Green List (high evidence)",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:19:23.371757+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc14a has been classified as Green List (High Evidence).",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:19:02.183027+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CABP2 as ready",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:19:02.175298+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cabp2 has been classified as Green List (High Evidence).",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:18:57.458686+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CABP2 as Green List (high evidence)",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:18:57.444435+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cabp2 has been classified as Green List (High Evidence).",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:18:33.412159+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B2 as ready",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:18:33.403825+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:18:26.274974+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B2 as Green List (high evidence)",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:18:26.264602+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:17:37.900823+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRV1 as ready",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:17:37.887472+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:17:33.226273+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRV1 as Green List (high evidence)",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-11-20T13:17:33.218549+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-11-20T12:47:28.005762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5393",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30503519, 23230001; Phenotypes: FILS syndrome, 615139, IMAGE-I syndrome, 618336, {Colorectal cancer, susceptibility to, 12}, 615083; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-11-20T12:23:21.763965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5393",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 23033313, 16783569; Phenotypes: ?Retinitis pigmentosa 23, 300424, Joubert syndrome 10, 300804, Simpson-Golabi-Behmel syndrome, type 2, 300209, Orofaciodigital syndrome I, 311200; Mode of inheritance: Other",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-11-20T11:48:51.764238+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.134",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A3 were set to Stickler syndrome\nReview for gene: COL9A3 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2020-11-20T11:46:45.292426+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.134",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CEP78 was added\ngene: CEP78 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss\nReview for gene: CEP78 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2020-11-20T11:45:29.128637+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.134",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CDC14A was added\ngene: CDC14A was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653\nReview for gene: CDC14A was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2020-11-20T11:43:57.381487+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.134",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CABP2 was added\ngene: CABP2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2020-11-20T11:41:48.572433+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.134",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ATP2B2 was added\ngene: ATP2B2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP2B2 were set to Deafness, childhood onset\nReview for gene: ATP2B2 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-11-20T11:39:19.521593+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.134",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ADGRV1 was added\ngene: ADGRV1 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C\nAdded comment: Added from deafness gene list \nSources: Expert list",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:39:18.632292+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:39:01.572440+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:38:35.219325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NARS were changed from Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:38:09.184734+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:37:06.928145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:36:40.743861+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:36:06.243642+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:35:39.839340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:35:15.803948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: NARS.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:34:56.821904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:23:05.945046+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTULIN as ready",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:23:05.931722+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:23:01.305817+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTULIN as Green List (high evidence)",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:23:01.295506+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:22:33.198725+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTULIN was added\ngene: OTULIN was added to Lipodystrophy_Lipoatrophy. Sources: Expert list\nMode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTULIN were set to 27523608; 27559085\nPhenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM#\t617099\nReview for gene: OTULIN was set to GREEN\nAdded comment: Autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection.\r\n\r\nAt least 3 unrelated families reported. \nSources: Expert list",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2020-11-20T09:19:21.101591+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMB4 as ready",
"entity_name": "PSMB4",
"entity_type": "gene"
}
]
}