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{
"count": 220864,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1226",
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"results": [
{
"created": "2021-08-26T17:21:17.192377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKDC were set to ",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:20:59.151936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:20:40.619801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966, Absent T and B cells, normal NK cells, SCID, recurrent respiratory infections, microcephaly, seizures, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:07:03.562731+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-26T17:05:45.761958+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:05:45.752932+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:05:38.925082+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WAS were changed from to Neutropaenia, severe congenital, X-linked MIM# 300299; Wiskott-Aldrich syndrome MIM# 301000; Thrombocytopaenia, X-linked MIM# 313900",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:05:01.551364+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAS were set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:04:36.291105+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: WAS was changed from to Other",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:02:45.483434+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:00:59.483330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX1 as ready",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:00:59.472794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:00:50.650367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T17:00:12.532702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX1 were set to ",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:59:51.814064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:59:34.644749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:59:20.072728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301696, 31830774, 16684884; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430, Decreased T cells, Hypoparathyroidism, Conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies (cleft palate, prominent tubular nose etc), intellectual disability, Immunodeficiency, thymic hypoplasia or aplasia with resultant T‐cell dysfunction, renal anomalies, autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:57:58.804390+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:56:59.078537+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX1 as ready",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:56:59.067894+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:56:01.360873+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:54:54.754298+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX1 were set to ",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:54:04.186391+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:52:06.964880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTEL1 as ready",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:52:06.953341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtel1 has been classified as Green List (High Evidence).",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:51:51.837147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, autosomal dominant 4 MIM# 615190; Dyskeratosis congenita, autosomal recessive 5 MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:50:28.137680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTEL1 were set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:50:09.307592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:48:48.059256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301779, 23329068, 15210109, 23453664, 19461895, 25848748, 25607374; Phenotypes: Dyskeratosis congenita, autosomal dominant 4 MIM# 615190, Dyskeratosis congenita, autosomal recessive 5 MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:47:30.528433+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTEL1 as ready",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:47:30.518393+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtel1 has been classified as Green List (High Evidence).",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:47:27.760599+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, autosomal dominant 4 MIM# 615190; Dyskeratosis congenita, autosomal recessive 5 MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:47:00.435789+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTEL1 were set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:46:27.829071+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:43:12.083760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models \r\n\r\nHomozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function. \r\n*Founder variant g.70A>G (Amish and Finnish populations)\r\n\r\nCHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.; to: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models \r\n\r\nHomozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function. \r\n*Founder variant g.70A>G (Amish and Finnish populations)\r\n\r\nCHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.\r\n\r\nAnauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.\r\n",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:42:35.412365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RMRP: Changed publications: 16244706, 21396580, 22420014, 11940090, 16252239",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:40:46.164821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RMRP: Changed phenotypes: Cartilage hair hypoplasia (CHH) MIM#250250, Anauxetic dysplasia 1, MIM# 607095, Metaphyseal dysplasia without hypotrichosis, MIM# 250460",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:39:01.785455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:39:01.774721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:38:54.600511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMRP were changed from to Cartilage-hair hypoplasia MIM#250250",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:38:35.640218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RMRP were set to ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:37:41.537434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:37:21.678905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014; Phenotypes: Cartilage hair hypoplasia (CHH) MIM#250250, shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities, CID, impaired lymphocyte proliferation, low Ig levels, antibodies variably decreased, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:36:12.679149+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:36:12.668928+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:36:09.751638+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMRP were changed from to Cartilage hair hypoplasia (CHH) MIM#250250; shortened limbs; short stature; metaphysical dysplasia; fine, sparse and/or light-coloured hair; hematologic abnormalities; CID; impaired lymphocyte proliferation; low Ig levels; antibodies variably decreased; bone marrow failure; autoimmunity; susceptibility to lymphoma and other cancers; impaired spermatogenesis; neuronal dysplasia of the intestine",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:34:58.437420+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RMRP were set to ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T16:34:33.927226+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T15:29:35.584401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8953",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900, Short stature, dysmorphic facies, sun-sensitive, immunoglobulin deficiency (IgA, IgG, IgM), erythema, marrow failure, leukaemia, lymphoma, chromosomal instability, predisposition to malignancies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-08-26T15:14:47.873123+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.28",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843216, 19890784, 26123418, 11023514, 7964471; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971, low T-cell numbers, normal-high B and NK-cell numbers, fever, rash, failure to thrive, recurrent respiratory and gastric infections, Hepatomegaly, Splenomegaly, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, decreased immunoglobulins; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2021-08-26T15:01:30.205391+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "edited their review of gene: LIG4: Changed phenotypes: LIG4 syndrome MIM# 606593, T-/B- lymphocytopaenia, Normal NK, radiation sensitivity, Microcephaly, low/ absent B and T cells, low Ig, raised IgM, failure to thrive, bacterial/viral/fungal infections, hypogammaglobulinaemia, neurodevelopmental delay, microcephaly, pancytopaenia",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-08-26T14:51:48.558431+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242109, 11047757, 29855039, 15833888, 28993958, 15577852; Phenotypes: Ectodermal dysplasia and immunodeficiency 1 MIM# 300291, Immunodeficiency 33 MIM# 300636; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-26T14:48:54.847646+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-26T14:48:44.960818+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "edited their review of gene: IKBKG: Added comment: Ectodermal dysplasia with immunodeficiency\r\nOver 12 families have been identified with IKBKG variants\r\nIndividuals typically present within the first year of life with recurrent infections (pneumonia, bacterial infections of the bone and soft tissue), elevated IgM and ectodermal dysplasia features (sparse scalp and body hair, reduced ability to sweat, and conical teeth)\r\n------\r\nImmunodeficiency-33 and no ectodermal dysplasia\r\n10 unrelated individuals been reported with IKBKG variants\r\nCharacterised by early-onset severe infections, hypogammaglobulinaemia, decreased IgG and impaired antibody response to multiple vaccinations.\r\n-------\r\nMultiple null IKBKG mouse models demonstrating both disease phenotypes AND\r\nHemizygous (insertion, slice site, deletion and missense) variants have been reported in association with both diseases, causing premature stop codons; most common variants are splice-site; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-26T14:32:32.593482+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association; more than 20 unrelated individuals and multiple CD40LG deficient mouse models demonstrate an association with X-linked recessive hyper IgM syndrome. \r\nHeterozygous females are characteristically asymptomatic (normal immunoglobulin levels); however, there have been rare cases of affected females expressing clinical phenotypes due to skewed X-chromosome inactivation (PMID: 16311023 & 9933119)\r\n\r\nVariants identified include missense, in-frame indel, nonsense, frameshift, large deletion and complex rearrangements resulting in LOF.\r\n\r\nTypical immunological profile includes decreased IgG/IgA/IgE levels with normal-increased IgM levels, resulting in susceptibility to severe and opportunistic viral/bacterial infections.; to: Well-established gene-disease association; more than 20 unrelated individuals and multiple CD40LG deficient mouse models demonstrate an association with X-linked recessive hyper IgM syndrome. \r\nHeterozygous females are characteristically asymptomatic (normal immunoglobulin levels); however, there have been rare cases of affected females expressing clinical phenotypes due to skewed X-chromosome inactivation (PMID: 16311023 & 9933119)\r\n\r\nVariants identified include missense, in-frame indel, nonsense, frameshift, large deletion and complex rearrangements resulting in LOF.\r\n\r\nTypical immunological profile includes decreased IgG/IgA/IgE levels with normal-increased IgM levels, resulting in susceptibility to severe and opportunistic viral/bacterial infections.",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-08-26T14:25:39.457237+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11242115, 19006568, 16804117, 8069912, 10575547, 7579329, 7795648, 23807894; Phenotypes: Neutropenia, severe congenital, X-linked MIM# 300299, Wiskott-Aldrich syndrome MIM# 301000, Thrombocytopenia, X-linked MIM# 313900; 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": "WAS",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:55:10.711464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX5 as ready",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:55:10.701937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx5 has been classified as Green List (High Evidence).",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:53:11.285707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX5 were changed from to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:52:50.434085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFX5 were set to ",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:52:27.846325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:52:02.743866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9401005, 29527204, 30170160, 7990905, 8642248, 7699327; Phenotypes: Bare lymphocyte syndrome, type II, complementation group C MIM# 209920, Bare lymphocyte syndrome, type II, complementation group E MIM# 209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:46:14.102443+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX5 as ready",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:46:14.091740+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx5 has been classified as Green List (High Evidence).",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:46:07.688156+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX5 were changed from to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:45:38.239849+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFX5 were set to ",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:45:04.296283+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:41:26.548037+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.378",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: Well-established disease-gene association with DiGeorge syndrome and Velocardiofacial syndrome; multiple mouse models\r\n\r\nMost common micro-deletion syndrome (22q11.2 Deletion Syndrome) which can lead to diverse clinical features comprising a triad of immunodeficiency, hypoparathyroidism, and congenital heart defect in addition to renal anomalies, autoimmunity etc. Velocardiofacial syndrome presenting with the majority of physical malformations (cleft palate, prominent tubular nose, narrow palpebral fissures, and retruded mandible etc).\r\n\r\nImmunodeficiency is present in the majority of patients with 22q11.2 Deletion Syndrome and is the second leading cause of death in these patients.; to: Well-established disease-gene association with DiGeorge syndrome and Velocardiofacial syndrome; multiple mouse models\r\n\r\nMost common micro-deletion syndrome (22q11.2 Deletion Syndrome) which can lead to diverse clinical features comprising a triad of immunodeficiency, hypoparathyroidism, and congenital heart defect in addition to renal anomalies, autoimmunity etc. Velocardiofacial syndrome presenting with the majority of physical malformations (cleft palate, prominent tubular nose, narrow palpebral fissures, and retruded mandible etc).\r\n\r\nImmunodeficiency is present in the majority of patients with 22q11.2 Deletion Syndrome and is the second leading cause of death in these patients.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T12:40:40.356241+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.378",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301696, 31830774, 16684884; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430, Decreased T cells, Hypoparathyroidism, Conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies (cleft palate, prominent tubular nose etc), intellectual disability, Immunodeficiency, thymic hypoplasia or aplasia with resultant T‐cell dysfunction, renal anomalies, autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-08-26T11:47:25.747214+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.378",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301779, 23329068, 15210109, 23453664, 19461895, 25848748, 25607374; Phenotypes: Dyskeratosis congenita, autosomal dominant 4 MIM# 615190, Dyskeratosis congenita, autosomal recessive 5 MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:37:06.114493+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.378",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014; Phenotypes: Cartilage hair hypoplasia (CHH) MIM#250250, shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities, CID, impaired lymphocyte proliferation, low Ig levels, antibodies variably decreased, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-08-26T10:23:39.506619+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.378",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9401005, 29527204, 30170160, 7990905, 8642248, 7699327; Phenotypes: Bare lymphocyte syndrome, type II, complementation group C MIM# 209920, Bare lymphocyte syndrome, type II, complementation group E MIM# 209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFX5",
"entity_type": "gene"
},
{
"created": "2021-08-26T09:32:17.790034+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant 81, MIM# 619500",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2021-08-26T09:31:51.484039+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELMOD3: Changed phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant 81, MIM# 619500",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2021-08-26T09:31:32.108493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant 81, MIM# 619500",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2021-08-26T09:31:01.633428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELMOD3: Changed phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant 81, MIM# 619500",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:16:48.562480+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYK2 as ready",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:16:48.551984+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyk2 has been classified as Green List (High Evidence).",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:16:45.894010+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYK2 were changed from to Immunodeficiency 35, MIM# 611521",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:16:15.416710+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYK2 were set to ",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:15:45.732296+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:15:20.577806+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17088085, 17521577, 26304966; Phenotypes: Immunodeficiency 35, MIM# 611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:10:33.194233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYK2 as ready",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:10:33.183565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyk2 has been classified as Green List (High Evidence).",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:09:59.884121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYK2 were changed from to Immunodeficiency 35, MIM# 611521",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:09:40.481664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYK2 were set to ",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:09:22.003849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-25T10:09:03.405200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17088085, 17521577, 26304966; Phenotypes: Immunodeficiency 35, MIM# 611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:28:13.661867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAG1 as ready",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:28:13.651183+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rag1 has been classified as Green List (High Evidence).",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:28:06.125982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAG1 were changed from to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:27:47.505953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAG1 were set to ",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:27:31.386432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:26:49.969384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAG2 as ready",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:26:49.958171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rag2 has been classified as Green List (High Evidence).",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:26:41.333853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAG2 were changed from to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:26:21.837766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAG2 were set to ",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:26:02.987412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:25:31.370107+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDEM3 were changed from Congenital disorder of glycosylation; Developmental delay to Congenital disorder of glycosylation, type 2V, MIM# 619493",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-24T21:25:02.170747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDEM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type 2V, MIM# 619493; Mode of inheritance: None",
"entity_name": "EDEM3",
"entity_type": "gene"
}
]
}