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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1588",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1586",
"results": [
{
"created": "2020-09-15T16:31:44.479135+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATRX were set to 19444090; 11449489; 17579672\nPhenotypes for gene: ATRX were set to 301040 Alpha-thalassemia/mental retardation syndrome",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.433136+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSR2 was added\ngene: TSR2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Amber,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TSR2 were set to 24942156; 20301769\nPhenotypes for gene: TSR2 were set to 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.383405+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STEAP3 was added\ngene: STEAP3 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH\nMode of inheritance for gene: STEAP3 was set to Unknown\nPhenotypes for gene: STEAP3 were set to hypochromic anaemia",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.338434+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS28 was added\ngene: RPS28 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber,Wessex and West Midlands GLH\nMode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS28 were set to 24942156; 20301769\nPhenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164; 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.288052+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL18 was added\ngene: RPL18 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH\nMode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL18 were set to 28280134\nPhenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.244746+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Amber\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PGK1 were set to 6412025; 16740138\nPhenotypes for gene: PGK1 were set to 300653 Phosphoglycerate kinase 1 deficiency",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.197451+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber\nMode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHP2 were set to 613987 Dyskeratosis congenita, autosomal recessive 2",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.153364+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFB11 was added\ngene: NDUFB11 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH\nMode of inheritance for gene: NDUFB11 was set to Unknown\nPhenotypes for gene: NDUFB11 were set to sideroblastic anaemia",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.109552+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH\nMode of inheritance for gene: LARS2 was set to Unknown\nPhenotypes for gene: LARS2 were set to hydrops/sideroblastic anaemia",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.064069+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YARS2 was added\ngene: YARS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YARS2 were set to 23918765; 20598274; 22504945\nPhenotypes for gene: YARS2 were set to 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:44.010656+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XK was added\ngene: XK was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: XK were set to 11761473; 17683354\nPhenotypes for gene: XK were set to 300842 McLeod syndrome",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.957739+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UMPS was added\ngene: UMPS was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UMPS were set to 9042911\nPhenotypes for gene: UMPS were set to 258900 Orotic aciduria with megaloblastic anaemia",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.904999+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRNT1 was added\ngene: TRNT1 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRNT1 were set to sideroblastic anaemia; 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.853725+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPI1 was added\ngene: TPI1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPI1 were set to 9338582; 11698297\nPhenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512; 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder",
"entity_name": "TPI1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.794845+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS6 was added\ngene: TMPRSS6 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS6 were set to 18408718\nPhenotypes for gene: TMPRSS6 were set to 206200 Iron refractoryirondeficiencyanemia; Iron-Refractory Iron Deficiency Anemia; Iron refractoryirondeficiencyanemia,206200",
"entity_name": "TMPRSS6",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.741363+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TF was added\ngene: TF was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TF were set to 11110675; 1862777; 8187613; 3472216; 10660486\nPhenotypes for gene: TF were set to 209300 Congenital hypotransferrinemia; Congenital hypotransferrinemia; Atransferrinemia, 209300",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.685817+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to 7849710; 10518276\nPhenotypes for gene: TCN2 were set to failure to thrive; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia; neutropenic colitis; thrombocytopenia; 275350 Transcobalamin II deficiency; megaloblastic bone marrow; pancytopenia",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.628389+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTB was added\ngene: SPTB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTB were set to 8226774; 3276733\nPhenotypes for gene: SPTB were set to Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; 617948 Elliptocytosis-3; RBC membrane abnormality; Spherocytosis,616649; 616649 Spherocytosis, type 2",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.571984+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTA1 was added\ngene: SPTA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTA1 were set to 1679439; 3940543; 4077050\nPhenotypes for gene: SPTA1 were set to 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; RBC membrane abnormality; 270970 Spherocytosis, type 3; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.518303+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A1 was added\ngene: SLC4A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC4A1 were set to 1722314\nPhenotypes for gene: SLC4A1 were set to 166900 Ovalocytosis, SA type; Ovalocytosis, SA type, 166900; 612653 Spherocytosis, type 4; Haemolytic Anemia; Cryohydrocytosis,185020; RBC membrane abnormality; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; Spherocytosis, type 4, 612653",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.464504+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC2A1 were set to 22492876; 21791420\nPhenotypes for gene: SLC2A1 were set to 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Stomatocytosis",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.411088+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A38 was added\ngene: SLC25A38 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A38 were set to 19412178\nPhenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.357310+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A2 were set to 10391221; 10978358\nPhenotypes for gene: SLC19A2 were set to 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.299222+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC11A2 was added\ngene: SLC11A2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC11A2 were set to 15459009; 16439678; 16160008\nPhenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic, with iron overload 1, 206100; 206100 Anemia, hypochromic microcytic, with iron overload 1",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.248176+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23B was added\ngene: SEC23B was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC23B were set to 19561605\nPhenotypes for gene: SEC23B were set to 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Congenital Dyserythropoietic Anemia; 224100 Congenital dyserythropoietic anaemia type 2; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.181386+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome; 260400 Shwachman-Diamond syndrome",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.127707+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS7 was added\ngene: RPS7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS7 were set to 19061985; 27882484; 23718193\nPhenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, 612563; 612563 Diamond-Blackfan anemia 8; Diamond-Blackfan Anemia; 612563 Diamond_Blackfan Anemia 8; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 8; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 8",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.070357+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS29 was added\ngene: RPS29 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS29 were set to 24829207\nPhenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:43.015051+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS27 was added\ngene: RPS27 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS27 were set to 23718193; 25424902\nPhenotypes for gene: RPS27 were set to ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17,; Diamond-Blackfan anemia",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.962341+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS26 were set to 23812780; 20116044; 24942156\nPhenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10; Diamond_Blackfan Anemia 10; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Inherited Bone Marrow Failure Syndromes; 613309 Diamond-Blackfan anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.897236+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS24 were set to 17186470; 23812780\nPhenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 3; Diamond-Blackfan Anemia 3; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 610629 Diamond-blackfan anemia 3; 610629 Diamond_Blackfan Anemia 3",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.844654+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS19 were set to 9988267\nPhenotypes for gene: RPS19 were set to 105650 Diamond-Blackfan anemia 1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia; 105650 Diamond_Blackfan Anemia 1; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.790381+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS17 were set to 19953637; 19061985; 17647292; 22045982\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.740310+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS10 was added\ngene: RPS10 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS10 were set to 20116044\nPhenotypes for gene: RPS10 were set to 613308 Diamond-Blackfan anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 9; Diamond_Blackfan Anemia 9; DIAMOND-BLACKFAN ANEMIA 9; 613308 Diamond_Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 9, 613308; Diamond Blackfan anemia",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.687301+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL9 was added\ngene: RPL9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL9 were set to 29114930\nPhenotypes for gene: RPL9 were set to ?Diamond-Blackfan anaemia; N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.632241+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL5 were set to 19061985\nPhenotypes for gene: RPL5 were set to Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia 6; 612561 Diamond-Blackfan anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 6, 612561; Diamond Blackfan anemia",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.578715+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL35A were set to 18535205\nPhenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, 612528; Diamond_Blackfan Anemia 5; Diamond-Blackfan Anemia; 612528 Diamond_Blackfan Anemia 5; 612528 Diamond-Blackfan anemia 5; Diamond-Blackfan Anemia 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 5",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.526291+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL31 was added\ngene: RPL31 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green\nMode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL31 were set to 25424902; 25042156\nPhenotypes for gene: RPL31 were set to N/A ? Diamond-Blackfan Anaemia",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.485364+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL27 was added\ngene: RPL27 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL27 were set to 25424902\nPhenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.444792+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL26 was added\ngene: RPL26 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL26 were set to 22431104\nPhenotypes for gene: RPL26 were set to ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.400461+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL15 were set to 23812780\nPhenotypes for gene: RPL15 were set to 615550 ?Diamond-Blackfan anaemia 12; 615550 ?Diamond-Blackfan anemia 1; ?Diamond-Blackfan anemia 12, 615550",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.345912+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL11 were set to 19061985; 23812780; 23718193\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, 612562; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 7; Diamond Blackfan anemia; 612562 Diamond_Blackfan Anemia 7; 612562 Diamond-Blackfan anemia 7",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.293830+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHAG was added\ngene: RHAG was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: RHAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RHAG were set to 18931342\nPhenotypes for gene: RHAG were set to 185000 Overhydrated hereditary stomatocytosis; Stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.242313+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS1 was added\ngene: PUS1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS1 were set to 15108122; 15772074\nPhenotypes for gene: PUS1 were set to 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.188345+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKLR were set to 8664896; 14014643; 7706479\nPhenotypes for gene: PKLR were set to Enzyme Disorder; 266200 Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.135978+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO1 was added\ngene: PIEZO1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIEZO1 were set to 22529292; 23695678\nPhenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 194380 Stomatocytosis; Hereditary xerocytosis; Stomatocytosis; 616843 Lymphatic malformation 6",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.085086+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PFKM were set to 7513946; 2140573\nPhenotypes for gene: PFKM were set to 232800 Glycogen storage disease VII; Glycogen storage disease VII, 232800",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:42.032976+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NT5C3A was added\ngene: NT5C3A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NT5C3A were set to 12714505; 11369620\nPhenotypes for gene: NT5C3A were set to 266120 Anemia, hemolytic, due to UMPH1 deficiency; Anemia, hemolytic, due to UMPH1 deficiency, 266120",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.980678+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTRR was added\ngene: MTRR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTRR were set to 15714522; 12555939\nPhenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.928507+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTR was added\ngene: MTR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTR were set to 9683607; 12068375\nPhenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.868020+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPIN2 was added\ngene: LPIN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LPIN2 were set to 15994876; 17330256\nPhenotypes for gene: LPIN2 were set to Majeed syndrome; Congenital dyserythropoietic anemia; Majeed syndrome, 609628; 609628 Majeed syndrome; 609628 Microcytic anemia; CDA; Microcytic anemia",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.816151+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF1 was added\ngene: KLF1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLF1 were set to 21055716; 29200155\nPhenotypes for gene: KLF1 were set to 613673 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; 613673 Congenital dyserythropoietic anaemia type 4; Dyserythropoietic anemia, congenital, type IV",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.764200+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF23 was added\ngene: KIF23 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KIF23 were set to 23570799\nPhenotypes for gene: KIF23 were set to Anaemia, dyserythropoietic congenital, type III; Enzyme Disorder; CDA III; Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; Congenital dyserythropoietic anemia (CDA)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.713576+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNN4 was added\ngene: KCNN4 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN4 were set to 26148990; 26178367\nPhenotypes for gene: KCNN4 were set to Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.663317+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HSPA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HSPA9 were set to 26491070\nPhenotypes for gene: HSPA9 were set to sideroblastic anaemia; 182170 Sideroblastic anaemia 4; Sideroblastic anaemia type 4, 182170; 182170 sideroblastic anaemia type 4",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.611305+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HK1 were set to 12393545; 7655856\nPhenotypes for gene: HK1 were set to 235700 Enzyme Disorder; Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.559205+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBG2 was added\ngene: HBG2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HBG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HBG2 were set to 26500940\nPhenotypes for gene: HBG2 were set to Cyanosis, transient neonatal, 613977; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.509651+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBG1 was added\ngene: HBG1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HBG1 were set to 26500940\nPhenotypes for gene: HBG1 were set to 141749 Hereditary persistance of fetal haemoglobin; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.459848+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBD was added\ngene: HBD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HBD were set to 27630894; 25490067\nPhenotypes for gene: HBD were set to Thalassemiadue to HbLepore; Thalassemia due to Hb Lepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia,delta; Thalassemia, delta",
"entity_name": "HBD",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.409994+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBB was added\ngene: HBB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HBB were set to 20067565; 23637309\nPhenotypes for gene: HBB were set to Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; 141749 Delta-beta thalassaemia; 613985 Thalassemia, beta; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Erythremias, beta-; 603902 Dominand inclusion body beta thalassaemia; 613985 Beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; 603902 Thalassemia-beta, dominant inclusion-body; Globin Disorder; 603903 Sickle cell disease; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; Methemoglobinemias, beta-",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.360541+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBA2 was added\ngene: HBA2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HBA2 were set to 2050764\nPhenotypes for gene: HBA2 were set to Heinz body anemia,140700; Hemoglobin H disease, nondeletional, 613978; 60413 Thalassemia, alpha; Globin Disorder; Hypochromic microcytic anemia; 604131 Alpha thalassaemia; Erythrocytosis; Thalassemia, alpha-, 604131",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.310916+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBA1 was added\ngene: HBA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HBA1 were set to 2050764\nPhenotypes for gene: HBA1 were set to Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978; Erythremias, alpha-; Methemoglobinemias, alpha-; Globin Disorder; 604131 Alpha thalassaemia; 604131 Thalassemias, alpha",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.261059+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSS were set to 8896573\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130; Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency; 231900 Enzyme Disorder; 266130 Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency, 231900",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.207757+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSR was added\ngene: GSR was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSR were set to 8533822\nPhenotypes for gene: GSR were set to Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; NA Enzyme Disorder",
"entity_name": "GSR",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.150881+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPI was added\ngene: GPI was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPI were set to 411100\nPhenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.102306+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLRX5 were set to 25342667; 20364084; 17485548\nPhenotypes for gene: GLRX5 were set to 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 616860 Pyridoxine refractory sideroblastic anaemia 3",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.056641+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIF was added\ngene: GIF was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIF were set to 15738392; 14576042\nPhenotypes for gene: GIF were set to 261000 Intrinsic factor deficiency",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:41.016040+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCLC was added\ngene: GCLC was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCLC were set to 10515893\nPhenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450 Glutamate-cysteine ligase deficiency; Glutamate-cysteine ligase deficiency",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.963558+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GATA1 were set to 22706301; 24766296; 30228860\nPhenotypes for gene: GATA1 were set to 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; 300367 Diamond Blackfan Anaemia; Myelodysplastic syndrome (MDS), Paediatric; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Diamond-Blackfan anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.914067+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: G6PD were set to 18177777\nPhenotypes for gene: G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; 300908 Hemolytic anemia due to G6PD deficiency; Enzyme Disorder; 300908 Hemolytic anemia, G6PD deficient (favism)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.853529+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPB42 was added\ngene: EPB42 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: EPB42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPB42 were set to 1558976; 7772513; 12176912\nPhenotypes for gene: EPB42 were set to Elliptocytosis; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis; RBC membrane abnormality; 612690 Hereditary spherocytosis type 5; Minkowski-Chauffard disease; 612690 Spherocytosis, type 5",
"entity_name": "EPB42",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.803427+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPB41 was added\ngene: EPB41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: EPB41 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EPB41 were set to 8423235; 1430200; 3134067\nPhenotypes for gene: EPB41 were set to Elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis-1,611804; Hereditary elliptocytosis; 611804 Hereditary elliptocytosis; RBC membrane abnormality",
"entity_name": "EPB41",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.754926+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHFR was added\ngene: DHFR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHFR were set to 21310276; 21310277\nPhenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.704310+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYB5R3 was added\ngene: CYB5R3 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB5R3 were set to 18318771; 15921385\nPhenotypes for gene: CYB5R3 were set to Methaemoglobinaemia type I and II, 250800; 250800 Methemoglobinemia; 250800 Methaemoglobinaemia type I and II; Methaemoglobinaemia",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.654857+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUBN was added\ngene: CUBN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CUBN were set to 17285242; 15024727\nPhenotypes for gene: CUBN were set to 261100 Megaloblastic anemia-1, Finnish type; Megaloblastic Anemia; Megaloblastic anemia-1, Finnish type, 261100",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.602971+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX4I2 was added\ngene: COX4I2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX4I2 were set to 19268275\nPhenotypes for gene: COX4I2 were set to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.551326+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDAN1 was added\ngene: CDAN1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDAN1 were set to 16098079; 12434312\nPhenotypes for gene: CDAN1 were set to 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Dyserythropoietic anemia, congenital, type Ia",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.505520+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD59 was added\ngene: CD59 was added to Rare anaemia_GEL. Sources: NHS GMS,North West GLH,Yorkshire and North East GLH,Expert Review Green\nMode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD59 were set to 23149847; 1382994; 24382084\nPhenotypes for gene: CD59 were set to Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.463501+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C15orf41 was added\ngene: C15orf41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C15orf41 were set to 29885034; 29031773; 23716552\nPhenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, 615631; 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib",
"entity_name": "C15orf41",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.401179+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANK1 was added\ngene: ANK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: ANK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ANK1 were set to 9590147; 7883994; 11167760\nPhenotypes for gene: ANK1 were set to 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality; Spherocytosis, type 1; RBC membrane abnormality; Spherocytosis, type 1,182900",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.346820+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMN was added\ngene: AMN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMN were set to 17285242; 12590260\nPhenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, 261100; 261100 Megaloblastic anemia-1, Norwegian type",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.279516+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOA was added\ngene: ALDOA was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDOA were set to 7331996; 8598869\nPhenotypes for gene: ALDOA were set to Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder; Glycogen storage disease; 611881 Glycogen storage disease XII; Aldolase A deficiency; 611881 Aldolase A deficiency; Glycogen storage disease XII, 611881",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.227756+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ALAS2 were set to 10029606\nPhenotypes for gene: ALAS2 were set to 300751 Sideroblastic anaemia 1; Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Anemia, sideroblastic, 1",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.171713+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK1 was added\ngene: AK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK1 were set to 28211224\nPhenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency, 612631; 612631 Hemolytic anemia due to adenylate kinase deficiency",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.125592+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA2 was added\ngene: ADA2 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA2 were set to Diamond Blackfan anaemia",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.087950+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCG8 was added\ngene: ABCG8 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG8 were set to sitosterolaemia; 210250 sitosterolaemia",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:40.039274+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCG5 was added\ngene: ABCG5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG5 were set to sitosterolaemia; 210250 sitosterolaemia",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:39.981552+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ABCB7 were set to 11050011; 11843825; 4045952\nPhenotypes for gene: ABCB7 were set to 301310 Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310; Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; 301310 Sideroblastic anaemia",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:31:39.941061+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Rare anaemia_GEL",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-15T16:28:37.922471+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XRCC2 as ready",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:28:37.911411+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:28:33.861072+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XRCC2 as Amber List (moderate evidence)",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:28:33.850230+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:28:06.464424+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XRCC2 was added\ngene: XRCC2 was added to Chromosome Breakage Disorders. Sources: Expert list\nMode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC2 were set to 27208205; 22232082; 11118202\nPhenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247\nReview for gene: XRCC2 was set to AMBER\nAdded comment: Single family reported, functional data. \nSources: Expert list",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:26:37.836224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XRCC2 as ready",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:26:37.825910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:26:28.337611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:25:54.939588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XRCC2 were set to ",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:25:32.833645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-09-15T16:25:13.660356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XRCC2 as Amber List (moderate evidence)",
"entity_name": "XRCC2",
"entity_type": "gene"
}
]
}