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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=319",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=317",
"results": [
{
"created": "2024-12-24T13:44:41.692945+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DENND5A were set to ",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:44:27.514470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:43:22.476274+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF1 as ready",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:43:22.463112+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf1 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:43:18.514037+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF1 were changed from Ciliary dyskinesia, primary, 13, 613193 (3) to Ciliary dyskinesia, primary, 13, MIM# 613193",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:43:09.327047+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF1 were set to ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:42:57.022649+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944400, 19944405, 32502479, 29228333, 27261005; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:41:38.912013+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC12 as ready",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:41:38.891161+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc12 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:41:34.879620+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC12 were changed from Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:41:17.660759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAJC12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:40:08.744824+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELAC2 as ready",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:40:08.730702+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:40:04.996848+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELAC2 were changed from Combined oxidative phosphorylation deficiency 17, 615440 (3) to Combined oxidative phosphorylation deficiency 17, MIM#615440",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:39:54.618756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELAC2 were set to ",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:39:42.522596+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:37:54.786900+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:37:54.771884+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:37:51.643770+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 (3) to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:37:40.737282+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:37:29.142915+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:35:41.893180+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:35:41.880029+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:35:38.749055+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B, 614678 (3) to Pontocerebellar hypoplasia, type 1B, MIM# 614678",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:35:26.770792+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC3 were set to ",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:35:13.914293+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:33:33.350417+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:33:33.340676+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Green List (High Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:33:30.054437+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from Aphakia, congenital primary, 610256 (3) to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:33:17.743282+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:33:04.671509+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:31:45.061419+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRRS1L as ready",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:31:45.044765+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frrs1l has been classified as Green List (High Evidence).",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:31:37.599826+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRRS1L were changed from Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive to Epileptic encephalopathy, early infantile, 37, MIM#616981",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:31:21.130218+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRRS1L were set to ",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:31:08.995133+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236917, 27239025, 30692144; Phenotypes: Developmental and epileptic encephalopathy, 37 MONDO:0014859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2024-12-24T12:21:56.364275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2224",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "changed review comment from: About 1% of individuals with GJB2-AR NSHL are compound heterozygotes for one GJB2 pathogenic variant and one of several different deletions that include sequences upstream of GJB2 (comprising either GJB6 and portions of CRYL1 or just portions of CRYL1) that delete cis-regulatory regions of GJB2, thereby abolishing GJB2 expression. Occasionally, the deletion also includes GJB2.; to: About 1% of individuals with GJB2-AR NSHL are compound heterozygotes for one GJB2 pathogenic variant and one of several different deletions that include sequences upstream of GJB2 (comprising either GJB6 and portions of CRYL1 or just portions of CRYL1) that delete cis-regulatory regions of GJB2, thereby abolishing GJB2 expression. Occasionally, the deletion also includes GJB2.\r\nSee also PMID: 20301449 GeneReviews",
"entity_name": "CRYL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T12:21:08.256611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2224",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: CRYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30455902; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRYL1",
"entity_type": "gene"
},
{
"created": "2024-12-23T17:07:53.396854+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndorme, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2024-12-23T16:48:36.470714+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488, 28416941; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2024-12-23T16:42:20.266938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34354730, 21572413, 29247375, 26802095; Phenotypes: Cortical malformations, occipital, MIM #614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-12-23T16:02:42.713856+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29343805, 28892560, 24128419; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM #617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2024-12-23T15:15:37.811846+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23273569, 23273567, 34529350; Phenotypes: Opsismodysplasia MIM #258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2024-12-23T14:18:59.424480+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.0",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "gene: PACSIN1 was added\ngene: PACSIN1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: PACSIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PACSIN1 were set to 36622335\nPhenotypes for gene: PACSIN1 were set to systemic lupus erythematosis; vasculitis; nephritis\nPenetrance for gene: PACSIN1 were set to unknown\nReview for gene: PACSIN1 was set to AMBER\nAdded comment: PMID: 36622335\r\nOne patient denovo novel missense Q59K, severe infantile SLE, with functional validation\r\nResults: We established that PACSIN1 forms a trimolecular complex with tumor necrosis factor receptor-associated factor 4 (TRAF4) and TRAF6 that is important for the regulation of type I IFN. The Q59K mutation in PACSIN1 augments binding to neural Wiskott-Aldrich syndrome protein while it decreases binding to TRAF4, leading to unrestrained TRAF6-mediated activation of type I IFN. Intriguingly, PACSIN1 Q59K increased TLR-7 but not TLR-9 signaling in human cells, leading to elevated expression of IFNβ and IFN-inducible genes. Untreated SLE patients had high PACSIN1 expression in peripheral blood cells that correlated positively with IFN-related genes. Introduction of the Pacsin1 Q59K mutation into mice caused increased surface TLR-7 and TRAIL expression in B cells \nSources: Literature",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-23T14:14:04.585996+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.0",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "gene: P2RY8 was added\ngene: P2RY8 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: P2RY8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P2RY8 were set to 34889940\nPhenotypes for gene: P2RY8 were set to systemic lupus erythematosis; vasculitis; nephritis\nPenetrance for gene: P2RY8 were set to unknown\nReview for gene: P2RY8 was set to GREEN\nAdded comment: PMID: 34889940\r\nSix unrelated pts, rare/ultra rare missense variants with some functional validation\r\ndenovo (p.Leu257Phe) x1\r\nN97K (c.291C>G;) x1, inheritance unknown\r\n\r\nE323G (c.968A>G), in six unrelated SLE patients, all of Chinese ethnicity (note there are several entries in Gnomad for this variant in the SE Asian community) - incomplete penetrance \r\n\r\nP2RY8 L257F and N97K variants show reduced inhibition of\r\nAKT and ERK \nSources: Literature",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-23T13:59:08.531796+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12664304, 11836498; Phenotypes: Hermansky-Pudlak syndrome 4, MIM #614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2024-12-23T13:50:27.616810+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities; to: Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities.\r\nMIM #610738",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-12-23T13:48:44.979234+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17187068, 18611981; Phenotypes: Neutropenia, severe congenital 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:35:43.482662+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT7A as ready",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:35:43.463900+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt7a has been classified as Green List (High Evidence).",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:35:36.592541+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT7A were changed from Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930 to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820; Santos syndrome, MIM# 613005",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:34:10.832775+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT7A were set to ",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:33:36.528609+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fuhrmann syndrome, MIM# 228930, Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820, Santos syndrome, MIM# 613005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:32:47.608305+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT7A as ready",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:32:47.592944+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt7a has been classified as Green List (High Evidence).",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:32:44.582269+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT7A were changed from to Santos syndrome, MIM# 613005; Fuhrmann syndrome 228930",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:32:08.931049+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Santos syndrome, MIM# 613005, Fuhrmann syndrome 228930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:30:01.736353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT7A were changed from Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820; Santos syndrome, MIM# 613005",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:29:19.090967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT7A were set to 21344627; 20949531; 16826533",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:28:57.169995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WNT7A: Changed publications: 19012338",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:28:45.032013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19012338]; Phenotypes: Santos syndrome, MIM# 613005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:26:46.782108+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRYL were changed from neurodevelopmental disorder MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, MIM# 621049",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:26:33.883074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRYL: Changed phenotypes: Pan-Chung-Bellen syndrome, MIM# 621049",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:26:18.564377+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRYL were changed from neurodevelopmental disorder MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, MIM# 621049",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:25:37.680473+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pan-Chung-Bellen syndrome, MIM# 621049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:25:14.699242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRYL were changed from neurodevelopmental disorder MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, MIM# 621049",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:24:54.914315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pan-Chung-Bellen syndrome, MIM# 621049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:24:31.636109+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRYL as ready",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:24:31.621606+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fryl has been classified as Green List (High Evidence).",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:23:18.963851+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRYL were changed from neurodevelopmental disorder MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, MIM# 621049",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-23T11:22:43.707545+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pan-Chung-Bellen syndrome, MIM# 621049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-12-20T14:30:52.747625+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.5",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, 616917 (3) to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-20T14:30:46.086721+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.837",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, 616917 (3) to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-20T14:30:39.274273+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-20T14:30:01.484962+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.87",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-20T14:29:22.614620+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.86",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-20T14:28:29.780063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2221",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:54:36.069136+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAD51 as ready",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:54:36.056635+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rad51 has been classified as Red List (Low Evidence).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:54:20.786634+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAD51 was added\ngene: RAD51 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD51 were set to 26253028; 26681308; 30907510\nPhenotypes for gene: RAD51 were set to Fanconi anemia complementation group R MONDO:0014986\nReview for gene: RAD51 was set to RED\nAdded comment: At least 3 unrelated individuals reported with Fanconi Anaemia and de novo missense variants, however, bone marrow failure was not present in any of the individuals reported. \nSources: Expert list",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:52:22.308939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Amber List (moderate evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:52:22.295238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:41:23.272932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 28691929, 38058754; Phenotypes: Fanconi anemia MONDO:0019391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:41:19.092906+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RFWD3 were set to 28691929",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:40:05.645118+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Amber List (moderate evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T10:40:05.632447+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:58:09.376973+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 28691929, 38058754; Phenotypes: Fanconi anemia MONDO:0019391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:56:05.884483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RFWD3 were set to 28691929",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:10:19.151796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Amber List (moderate evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:10:19.137807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:09:58.236873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 28691929, 38058754; Phenotypes: Fanconi anemia MONDO:0019391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:09:20.367124+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RFWD3 as ready",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:09:20.355100+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:09:09.763463+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Amber List (moderate evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:09:09.749161+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-20T09:02:31.615424+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RFWD3 was added\ngene: RFWD3 was added to Radial Ray Abnormalities. Sources: Literature\nMode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFWD3 were set to 28691929; 38058754\nPhenotypes for gene: RFWD3 were set to Fanconi anemia MONDO:0019391\nReview for gene: RFWD3 was set to AMBER\nAdded comment: Only 2 families reported, with radial ray defects as part of the phenotype. \nSources: Literature",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-19T18:22:37.636993+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RFWD3 were set to 28691929",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-19T18:21:57.324799+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Amber List (moderate evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-19T18:21:57.307352+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2024-12-19T18:21:23.119240+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 28691929, 38058754; Phenotypes: Fanconi anemia MONDO:0019391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
}
]
}