HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1231",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1229",
"results": [
{
"created": "2021-08-20T10:14:18.745397+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: RAD21: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 1% of patients have mutations in RAD21 gene.\r\n\r\nDeardorff et al. (2012) reported 6 patients with CdLS phenotype with heterozygous variants (4 microdeletions incl RAD21, and 2 missense variants), showing functional evidence for the missense variants. \r\n\r\nKrab et al. (2020) reported the clinical and molecular data in 29 patients from 22 families with CDLS4 and RAD21 variants\r\n\r\nMany other case reports.",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:14:03.234881+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 22633399, 32193685, 27882533, 30716475, 30125677, 24378232; Phenotypes: Cornelia de Lange syndrome 4, MIM # 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:12:56.309737+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:12:56.300720+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:12:54.190581+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from Cornelia De Lange to Cornelia de Lange syndrome 4, MIM # 614701",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:12:43.718751+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:11:35.912397+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRD4 as ready",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:11:35.902883+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:11:31.449674+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from to Cornelia de Lange syndrome",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:10:59.664846+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRD4 were set to ",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:10:33.191076+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:10:00.860634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRD4 as Green List (high evidence)",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:10:00.849957+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:09:32.855136+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29379197, 30302754, 11997514, 34035299; Phenotypes: Cornelia de Lange syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:08:42.464089+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRD4 were set to 29379197; 30302754",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:08:16.165901+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRD4 as Green List (high evidence)",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:08:16.156853+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:07:47.287625+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29379197, 30302754, 11997514, 34035299; Phenotypes: Cornelia de Lange syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:05:02.369190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRD4 as ready",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:05:02.354346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:04:50.778652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from to Cornelia de Lange syndrome",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:04:28.679164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRD4 were set to ",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:04:10.832439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:03:52.035124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29379197, 30302754, 11997514, 34035299; Phenotypes: Cornelia de Lange syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:02:50.331978+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRD4 as ready",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:02:50.321965+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:02:47.328544+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from to Cornelia de Lange syndrome",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:02:14.500747+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRD4 were set to ",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:01:51.479946+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:01:21.181228+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29379197, 30302754, 11997514, 34035299; Phenotypes: Cornelia de Lange syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T09:53:18.143122+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRD4 as ready",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T09:53:18.132798+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T09:53:05.725506+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:50:19.429645+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.230",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRPS1 as Green List (high evidence)",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:50:19.418610+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.230",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trps1 has been classified as Green List (High Evidence).",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:50:12.268451+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.229",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRPS1 was added\ngene: TRPS1 was added to Growth failure in early childhood. Sources: Literature\nMode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPS1 were set to PubMed: 11112658, 10615131\nPhenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I, OMIM # 190350; Trichorhinophalangeal syndrome, type III, OMIM # 190351\nReview for gene: TRPS1 was set to GREEN\nAdded comment: Trichorhinophalangeal syndrome (TRPS) is characterised by sparse, slowly growing scalp hair, laterally sparse eyebrows, bulbous tip of the nose, protruding ears, long flat philtrum, thin upper vermillion border, cone-shaped epiphyses (middle phalanges), and hip malformations (coxa plana, coxa magna, or coxa vara, degenerative arthrosis). TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.\r\n\r\nMomeni et al. (2000) identified 6 different nonsense mutations in the TRPS1 gene in 10 unrelated patients. Ludecke et al. (2001) found 35 different mutations in TRPS1 in 44 unrelated patients with TRPS I or TRPS III. The detection rate (86%) indicated that TRPS1 is the major locus for both type I and type III TRPS. They found no mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations. \nSources: Literature",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:38:13.994509+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.228",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PUF60 as Green List (high evidence)",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:38:13.983147+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.228",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: puf60 has been classified as Green List (High Evidence).",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:38:06.684692+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.227",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PUF60 was added\ngene: PUF60 was added to Growth failure in early childhood. Sources: Literature\nMode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PUF60 were set to PubMed: 19464398, 24140112, 28327570, 27804958\nPhenotypes for gene: PUF60 were set to Verheij syndrome, OMIM # 615583\nReview for gene: PUF60 was set to GREEN\nAdded comment: Verheij syndrome is characterised by growth retardation, delayed psychomotor development, dysmorphic facial features, skeletal/vertebral abnormalities, coloboma, renal defects, and cardiac defects. Over 25 patients reported in literature with deletions and SNVs involving PUF60. \nSources: Literature",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:32:05.677263+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.226",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGD1 as Green List (high evidence)",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:32:05.666861+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.226",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Green List (High Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:31:51.435543+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.225",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7954831, 20082460; Phenotypes: Aarskog-Scott syndrome, OMIM # 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:25:25.946542+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.225",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAD21 as Green List (high evidence)",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:25:25.933779+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.225",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:25:15.139344+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22633399, 32193685, 27882533, 30716475, 30125677, 24378232; Phenotypes: Cornelia de Lange syndrome 4, OMIM # 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:11:50.807200+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRD4 as Green List (high evidence)",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:11:50.797459+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T08:11:42.408712+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.223",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRD4 was added\ngene: BRD4 was added to Growth failure in early childhood. Sources: Literature\nMode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299\nPhenotypes for gene: BRD4 were set to Cornelia de Lange syndrome (no OMIM# yet)\nReview for gene: BRD4 was set to GREEN\nAdded comment: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene.\r\n\r\nOlley et al. (2018) report 4 patients with CdLS phenotype with 4 different variants (1 deletion incl BRD4, 1 missense, and 2 frameshift). Alesi et al. (2019) reported a patient with 19p13.12p13.11 deletion including BRD4 with CdLS phenotype. \r\n\r\nOlley et al (2021) provided further functional evidence for the previous missense variant, showing it reduces BRD4-occupancy at enhancers it does not affect transcription of the pluripotency network in mouse embryonic stem cells. Rather, it delays the cell cycle, increases DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.\r\n\r\nHouzelstein et al. (2002) showed that mice with heterozygous LOF mutations in Brd4 have marked early postnatal mortality, severe prenatal onset growth failure, abnormalities of the craniofacial skeleton and reduced body fat19; all features common in CdLS. \nSources: Literature",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:22:07.286318+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH2 were changed from Cardiomyopathy, hypertrophic, MIM#613873 to Cardiomyopathy, hypertrophic, MIM#613873; Cardiomyopathy, dilated, 2E, MIM# 619492",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:22:00.232656+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JPH2 were set to 30681346; 17509612; 23973696; 26869393; 28393127; 30235249",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:21:51.651090+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JPH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:21:37.992372+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: MODERATE evidence by ClinGen working group.\r\n\r\nVia ClinGen: Associated with hypertrophic cardiomyopathy in 16 probands in 5 publications with some functional evidence in support (expression studies, in vitro assays, animal models). \r\n\r\nConflicting evidence for missense variants in particular: one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes, and another novel missense variant was observed in an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause.; to: Association with HCM: MODERATE evidence by ClinGen working group.\r\n\r\nVia ClinGen: Associated with hypertrophic cardiomyopathy in 16 probands in 5 publications with some functional evidence in support (expression studies, in vitro assays, animal models). \r\n\r\nConflicting evidence for missense variants in particular: one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes, and another novel missense variant was observed in an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause.",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:21:26.206295+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JPH2: Added comment: Association with DCM: Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models. Onset in infancy reported.\r\n\r\nMODERATE by ClinGen.; Changed publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249, 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Cardiomyopathy, hypertrophic, MIM#613873, Cardiomyopathy, dilated, 2E, MIM# 619492; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:19:31.190383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH2 were changed from Cardiomyopathy, hypertrophic, MIM#613873; dilated cardiomyopathy to Cardiomyopathy, hypertrophic, MIM#613873; Cardiomyopathy, dilated, 2E, MIM# 619492",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:19:10.149663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JPH2: Changed phenotypes: Cardiomyopathy, hypertrophic, MIM#613873, Cardiomyopathy, dilated, 2E, MIM# 619492",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:18:50.112243+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH2 were changed from dilated cardiomyopathy to Cardiomyopathy, dilated, 2E, MIM# 619492",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:18:14.247588+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JPH2: Changed phenotypes: Cardiomyopathy, dilated, 2E, MIM# 619492",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:17:19.475330+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF699 as ready",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:17:19.461906+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:17:15.657932+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF699 as Green List (high evidence)",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:17:15.647695+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:16:50.595519+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF699 was added\ngene: ZNF699 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF699 were set to 33875846\nPhenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM# 619488\nReview for gene: ZNF699 was set to GREEN\nAdded comment: DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.\r\n\r\n12 unrelated families reported, 5 different homozygous frameshift variants. \nSources: Literature",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:15:07.699916+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF699 as ready",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:15:07.689126+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:14:29.520215+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF699 as Green List (high evidence)",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:14:29.509271+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:14:20.388748+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF699 was added\ngene: ZNF699 was added to Growth failure in early childhood. Sources: Literature\nMode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF699 were set to 33875846\nPhenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM# 619488\nReview for gene: ZNF699 was set to GREEN\nAdded comment: DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.\r\n\r\n12 unrelated families reported, 5 different homozygous frameshift variants. \nSources: Literature",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:11:19.265143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF699 as ready",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:11:19.256055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:11:07.084514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF699 as Green List (high evidence)",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:11:07.067791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:10:50.856597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF699 was added\ngene: ZNF699 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF699 were set to 33875846\nPhenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM# 619488\nReview for gene: ZNF699 was set to GREEN\nAdded comment: DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.\r\n\r\n12 unrelated families reported, 5 different homozygous frameshift variants. \nSources: Literature",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:08:24.537439+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF699 as ready",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:08:24.527164+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:08:19.123969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF699 as Green List (high evidence)",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:08:19.113063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf699 has been classified as Green List (High Evidence).",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-20T07:07:25.626686+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF699 was added\ngene: ZNF699 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF699 were set to 33875846\nPhenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM#\t619488\nReview for gene: ZNF699 was set to GREEN\nAdded comment: DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.\r\n\r\n12 unrelated families reported, 5 different homozygous frameshift variants. \nSources: Literature",
"entity_name": "ZNF699",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:25:38.457836+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLD2 as ready",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:25:38.446864+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold2 has been classified as Red List (Low Evidence).",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:25:00.468188+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARN as ready",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:25:00.457459+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parn has been classified as Green List (High Evidence).",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:24:54.440415+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:24:27.199604+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PARN were set to ",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:24:06.313715+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:23:35.982219+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PARN: Changed publications: 25893599, 26342108, 25848748, 32452087",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:22:50.983768+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:19:57.175324+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFE2L2 as ready",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:19:57.160519+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:19:35.375753+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYSM1 as ready",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:19:35.365070+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mysm1 has been classified as Green List (High Evidence).",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:19:07.858735+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG1 as ready",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:19:07.847462+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:18:49.186912+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:18:49.176082+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:18:15.915821+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXN1 as ready",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:18:15.905475+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxn1 has been classified as Green List (High Evidence).",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:18:08.558944+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXN1 were changed from to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:17:02.343695+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGT1 as ready",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:17:02.330552+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:16:59.272894+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGT1 were changed from to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853; XMEN; Low CD4; inverted CD4/CD8 ratio; reduced MAIT cells; poor proliferation to CD3; decreased memory B cells; progressive hypogammaglobulinaemia; reduced NK cell; EBV infection; lymphoma; viral infections; respiratory and GI infections; Glycosylation defects",
"entity_name": "MAGT1",
"entity_type": "gene"
}
]
}