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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=629",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=627",
"results": [
{
"created": "2023-03-17T07:37:31.813238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNFRSF9: Changed phenotypes: Immunodeficiency 109 with lymphoproliferation, MIM# 620282, EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:05:03.260660+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF1A as ready",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:05:03.245396+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf1a has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:04:56.571554+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFRSF1A as Red List (low evidence)",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:04:56.561115+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf1a has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:02:18.982325+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP2B as ready",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:02:18.971764+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:02:11.713447+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Amber List (moderate evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:02:11.703090+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:01:56.093040+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOP2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:00:46.725756+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:00:46.715621+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:00:39.994937+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPK1 as Green List (high evidence)",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:00:39.977381+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2023-03-16T16:00:29.121203+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TPK1.\nTag metabolic tag was added to gene: TPK1.",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:59:39.617865+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRNT1 as ready",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:59:39.609294+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:59:31.044611+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRNT1 as Amber List (moderate evidence)",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:59:31.023252+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:59:19.766448+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TRNT1.\nTag immunological tag was added to gene: TRNT1.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:59:05.523158+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:51:50.477132+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM6 as ready",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:51:50.469902+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm6 has been classified as Green List (High Evidence).",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:51:42.823323+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM6 as Green List (high evidence)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:51:42.803511+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm6 has been classified as Green List (High Evidence).",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:51:32.707989+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TRPM6.\nTag endocrine tag was added to gene: TRPM6.",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:50:50.803231+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UCP2 as ready",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:50:50.792230+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ucp2 has been classified as Red List (Low Evidence).",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:50:44.350021+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UCP2 were set to ",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:19:26.303880+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TNFRSF1A was added\ngene: TNFRSF1A was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNFRSF1A were set to PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641\nPhenotypes for gene: TNFRSF1A were set to Periodic fever, familial MIM#142680\nPenetrance for gene: TNFRSF1A were set to Incomplete\nReview for gene: TNFRSF1A was set to RED\nAdded comment: Strong gene disease association \r\nChildhood onset but age not consistently under 5 and cases of adult onset \r\nreports of variable penetrance \r\nRx\r\nNSAIDs, corticosteroids, Etanercept , anakinra, canakinumab, tocilizumab\r\n\r\nbecause there is no non-molecular confirmatory test I think should be red for variability of age of onset and severity of symptoms. \nSources: Expert list",
"entity_name": "TNFRSF1A",
"entity_type": "gene"
},
{
"created": "2023-03-16T15:02:39.733112+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TOP2B was added\ngene: TOP2B was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOP2B were set to PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963\nPhenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296\nReview for gene: TOP2B was set to AMBER\nAdded comment: congenital onset \r\nhumoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations\r\n\r\nTreatment immunoglobulin (only partially treats phenotype) no literature for evidence around immunoglobulin treatment. \r\n\r\nSuggest RED but maybe discuss with immunologist? \nSources: Expert list",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2023-03-16T14:54:03.874314+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TPK1 was added\ngene: TPK1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPK1 were set to PMID: 33086386, 32679198, 22152682, PMID: 33231275\nPhenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458\nReview for gene: TPK1 was set to GREEN\nAdded comment: Strong gene disease association\r\nVariable age of onset but always under 5years\r\n\r\nThiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011). \r\n\r\nBiotin and thiamine therapy - newer evidence (2021) suggests early thiamine therapy may prevent any neurologic deficits. \nSources: Expert list",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2023-03-16T14:47:46.804555+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TRNT1 was added\ngene: TRNT1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRNT1 were set to PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905\nPhenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084\nReview for gene: TRNT1 was set to AMBER\nAdded comment: Onset infancy\r\nStrong gene disease association \r\n\r\nSideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).\r\n\r\nBone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment\r\n\r\nAllelic disease: Retinitis pigmentosa and erythrocytic microcytosis MIM#616959. Also AR. \r\nDeLuca et al. (2016) concluded that hypomorphic TRNT1 mutations can cause a recessive disease that is almost entirely limited to the retina - this has teenage onset and is not treatable. can we exclude these variants? \nSources: Expert list",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2023-03-16T14:34:39.422993+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TRPM6 was added\ngene: TRPM6 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPM6 were set to PMID: 35903165, PMID: 18818955\nPhenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MIM#602014\nReview for gene: TRPM6 was set to GREEN\nAdded comment: Hypomagnaesemia and hypocalcaemia\r\nHypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009). \nSources: Expert list",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-03-16T14:28:48.892552+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: UCP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28681398, PMID: 27967291; Phenotypes: UCP2 associated hyperinsulinism; Mode of inheritance: None",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2023-03-16T13:11:10.838261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTLC1 were changed from Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) to Juvenile amyotrophic lateral sclerosis-27, MIM#620285; Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2023-03-16T13:09:20.136075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTLC1: Changed phenotypes: Juvenile amyotrophic lateral sclerosis-27, MIM#620285, Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400, Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:21:03.221363+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:20:28.728602+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLUD1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:20:10.426466+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:19:30.727510+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLUD1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:18:52.565184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:17:39.466031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLUD1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-16T12:17:13.892482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLUD1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:52:59.964217+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNG as ready",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:52:59.954820+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ung has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:52:54.440271+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNG as Amber List (moderate evidence)",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:52:54.432067+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ung has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:52:42.762813+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: UNG.\nTag immunological tag was added to gene: UNG.",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:52:31.573172+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with hyper IgM, type 5 MIM#608106; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:50:44.243305+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMPS as ready",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:50:44.230369+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umps has been classified as Green List (High Evidence).",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:50:37.072887+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UMPS as Green List (high evidence)",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:50:37.061090+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umps has been classified as Green List (High Evidence).",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:50:27.698985+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: UMPS.\nTag treatable tag was added to gene: UMPS.\nTag metabolic tag was added to gene: UMPS.",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:49:32.660661+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:49:32.653455+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:49:29.965711+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from spasticity; intellectual disability; global developmental delay; microcephaly; short stature to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:49:12.612484+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:48:55.795290+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCAS3 as Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:48:55.784099+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:48:38.954434+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34981858; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:47:01.896186+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:47:01.884962+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:46:59.503961+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from ataxia; visual impairment; neuroregression to Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:46:42.539505+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Red List (low evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:46:42.529565+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:46:28.014545+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487, Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:43:09.342018+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP2 as ready",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:43:09.312951+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:43:06.977880+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP2 were changed from dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair to Jaberi-Elahi syndrome, MIM# 617988",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:42:44.865741+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTPBP2 as Amber List (moderate evidence)",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:42:44.858347+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:42:30.860855+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Jaberi-Elahi syndrome, MIM# 617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:39:07.827670+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLGN4X as ready",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:39:07.818070+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Red List (Low Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:39:04.110800+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLGN4X were changed from Autism to Intellectual developmental disorder, X-linked MIM#300495",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:38:51.044031+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:38:37.917924+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:37:02.681036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Green List (high evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T20:37:02.669681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Green List (High Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T17:26:33.028547+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5190",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:MTSS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-15T17:25:30.229130+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:MTSS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-15T17:24:22.177454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.729",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:MTSS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-15T10:10:21.004901+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: NLGN4X",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T10:10:04.035748+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Green List (high evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T10:10:04.023032+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Green List (High Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2023-03-15T07:12:24.181921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.728",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35971781; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:59:49.566001+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD11B2 as ready",
"entity_name": "HSD11B2",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:59:49.550859+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd11b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD11B2",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:58:29.590157+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD11B2 as Green List (high evidence)",
"entity_name": "HSD11B2",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:58:29.578932+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd11b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD11B2",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:58:16.013284+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD11B2 was added\ngene: HSD11B2 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: HSD11B2.\nMode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD11B2 were set to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025\nReview for gene: HSD11B2 was set to GREEN\nAdded comment: Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone. More than 10 unrelated families reported.\r\n\r\nOnset is usually in infancy or early childhood.\r\n\r\nNon-genetic confirmatory testing: aldosterone, renin, potassium levels \nSources: Expert list",
"entity_name": "HSD11B2",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:45:50.461357+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOGA1 as ready",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:45:50.442294+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoga1 has been classified as Green List (High Evidence).",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:45:44.516184+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOGA1 as Green List (high evidence)",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:45:44.491201+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoga1 has been classified as Green List (High Evidence).",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2023-03-14T16:45:28.849791+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOGA1 was added\ngene: HOGA1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, metabolic tags were added to gene: HOGA1.\nMode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOGA1 were set to 20797690; 21896830; 22391140\nPhenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616\nReview for gene: HOGA1 was set to GREEN\nAdded comment: Well-established association with primary hyperoxaluria type III. c.700+5G>T is a recurrent pathogenic variant in European populations (possibly founder) and has high frequency in gnomad (0.2-0.3%).\r\n\r\nOnset in infancy, progressive multi-system disorder.\r\n\r\nTreatment: pyridoxine, drinking large volumes, alkalinzation of urine, pyrophosphate-containing solutions, liver-kidney transplant\r\n\r\nNon-genetic confirmatory testing: urinary oxalate \nSources: Expert list",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2023-03-14T14:30:24.048233+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: GTPBP2 was added\ngene: GTPBP2 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720\nPhenotypes for gene: GTPBP2 were set to dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair\nReview for gene: GTPBP2 was set to GREEN\ngene: GTPBP2 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2023-03-14T14:24:41.512790+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Neuroferritinopathies. Sources: Expert Review,Literature\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502\nPhenotypes for gene: BCAS3 were set to spasticity; intellectual disability; global developmental delay; microcephaly; short stature\nPenetrance for gene: BCAS3 were set to unknown\nReview for gene: BCAS3 was set to GREEN\ngene: BCAS3 was marked as current diagnostic\nAdded comment: Sources: Expert Review, Literature",
"entity_name": "BCAS3",
"entity_type": "gene"
}
]
}