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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=625",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=623",
"results": [
{
"created": "2023-03-24T11:11:47.516715+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Aimee Huynh",
"item_type": "entity",
"text": "gene: IL21 was added\ngene: IL21 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL21 were set to 24746753\nPhenotypes for gene: IL21 were set to immunodeficiency; inflammatory bowel disease\nPenetrance for gene: IL21 were set to unknown\nReview for gene: IL21 was set to AMBER\ngene: IL21 was marked as current diagnostic\nAdded comment: IL-21 deficiency - a novel monogenetic cause of severe, early-onset IBD associated with a CVID-like primary immunodeficiency. One case of a turkish boy born to consanguinous parents, diagnosed with IBD in early years (diarrhea from 2 months of age, worsened over time, biopsy typical of Crohn's). This proband had 2 siblings who had early onset IBD before age 1 year and died. \nSources: Expert Review",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:08:35.528571+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TF as ready",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:08:35.516994+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tf has been classified as Green List (High Evidence).",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:08:29.696784+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TF as Green List (high evidence)",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:08:29.686553+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tf has been classified as Green List (High Evidence).",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:08:18.721788+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TF.\nTag haematological tag was added to gene: TF.",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-03-24T10:55:34.452550+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DKC1 were set to 21284747\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita\nPenetrance for gene: DKC1 were set to unknown\nReview for gene: DKC1 was set to GREEN\ngene: DKC1 was marked as current diagnostic\nAdded comment: 2 unrelated infants with infant-onset DKC - the most prominent clinical finding was the presence of a severe, chronic, non-infectious enteropathy leading to malabsorption and nutrient deficiencies . Histological abnormalities included inflammation and mucosal apoptosis (identical to gut GVHD) in the esophagus, small bowel, or colon. Phenotypic overlap with IBD. Review with Dr. Peter McNaughton (immunologist QCH). \nSources: Expert Review",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-03-24T09:51:25.793914+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.5",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23) \nSources: Expert list, Literature; to: Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23, suggested adding gene to Stickler panel) \r\nSources: Expert list, Literature",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T09:50:57.448298+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.5",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Stickler Syndrome. Sources: Expert list,Literature\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782\nReview for gene: SLC29A3 was set to GREEN\nAdded comment: Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23) \nSources: Expert list, Literature",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T04:30:29.706500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.743",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: STX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 36355422; Phenotypes: Hearing impairment, HP:0000365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2023-03-24T04:04:20.880316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.743",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: ARF1: Changed publications: 36345169",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2023-03-24T04:03:30.753303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.743",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ARF1: Rating: ; Mode of pathogenicity: None; Publications: 3634516; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2023-03-23T23:04:15.350758+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SARS was added\ngene: SARS was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS were set to PMID:34570399, PMID: 34194004\nPhenotypes for gene: SARS were set to Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709\nReview for gene: SARS was set to RED\nAdded comment: developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations\r\nRx serine supplementation - limited evidence and sounds supportive only \nSources: Expert list",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:57:47.396621+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SCARB2 was added\ngene: SCARB2 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCARB2 were set to PMID: 34337151, PMID: 35346091, PMID: 26677510\nPhenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900\nReview for gene: SCARB2 was set to RED\nAdded comment: Onset not <5 \nSources: Expert list",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:53:36.942956+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SERPING1 was added\ngene: SERPING1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SERPING1 were set to PMID: 32898710\nPhenotypes for gene: SERPING1 were set to Angioedema, hereditary, 1 and 2 MIM#106100\nReview for gene: SERPING1 was set to RED\nAdded comment: episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts.\r\n\r\nAge of onset not typically <5\r\n\r\nTreatment Purified C1 inhibitor concentrate (Cinryze, Berinert, HAEGARDA, or Ruconest), Ecallantide (Kalbitor), Icatibant (Firazyr), Lanadelumab, Orladeyo (berotralstat), FFP or solvent-detergent treated plasma, antisense oligonucleotide treatment (donidalorsen) \nSources: Expert list",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:48:33.201382+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to PMID: 28165343\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 MIM#617575\nReview for gene: SGPL1 was set to RED\nAdded comment: infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects\r\n\r\nRx Hydrocortisone, kidney transplant (treatment doesn't fit screening model as would need to have ESRD before you had it?) \nSources: Expert list",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:44:42.919747+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SLC1A3 was added\ngene: SLC1A3 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A3 were set to PMID: 32754645\nPhenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656\nReview for gene: SLC1A3 was set to RED\nAdded comment: ataxia occurs with febrile illnesses\r\nEpisodic attacks lasted 2 to 3 hours and were often associated with nausea, vomiting, photophobia, phonophobia, vertigo, diplopia, and/or slurred speech\r\nNot consistently in children <5 and variable severity \r\n\r\nSuggested Rx acetazolamide \nSources: Expert list",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:37:28.480548+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SMARCD2 was added\ngene: SMARCD2 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCD2 were set to PubMed: 28369036, 33279574, 33025377\nPhenotypes for gene: SMARCD2 were set to Specific granule deficiency 2 MIM#617475\nReview for gene: SMARCD2 was set to GREEN\nAdded comment: recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects \r\n\r\nRx bone marrow transplant \nSources: Expert list",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:34:12.826366+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SNX10 was added\ngene: SNX10 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX10 were set to PMID: 30885997, PMID: 22499339\nPhenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 MIM#615085\nReview for gene: SNX10 was set to GREEN\nAdded comment: macrocephaly\r\nfailure to thrive \r\nosteopetrosis \r\n\r\nRx bone marrow tranplant \nSources: Expert list",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:27:32.344608+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SORD was added\ngene: SORD was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SORD were set to PMID: 32367058\nPhenotypes for gene: SORD were set to Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912\nReview for gene: SORD was set to RED\nAdded comment: Slowly progressive, onset not consistently <5\r\n\r\nRx epalrestat and ranirestat \nSources: Expert list",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:21:09.047297+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SOX3 was added\ngene: SOX3 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SOX3 were set to PMID: 31678974, PMID: 15800844\nPhenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked MIM#312000\nReview for gene: SOX3 was set to AMBER\nAdded comment: Amber in our mendeliome - reviewed for ID \r\nGreen in pituitary disorders \r\n\r\nXq27.1 duplication most common mechanism - inclusion might be a question of whether we can detect CNV's in this region\r\n\r\nneonatal hypoglycemia and growth hormone deficiency in addition to variable deficiencies of other pituitary hormones. Brain hypoplasia of the anterior pituitary with hypoplasia or absence of the lower half of the infundibulum\r\n\r\nRx Growth hormone, levothyroxine, hydrocortisone \nSources: Expert list",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:10:03.408185+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: STAT1 was added\ngene: STAT1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STAT1 were set to PMID: 31512162, PMID: 27117246\nPhenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796\nReview for gene: STAT1 was set to GREEN\nAdded comment: combined immunodeficiency \r\nautosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function.\r\ngain of function mutations - treat rituxomab\r\ncomplete - treat BMT \nSources: Expert list",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-23T22:01:26.047698+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STIM1 were set to PMID: 26469693, PMID: 30949876, PMID: 26560041\nPhenotypes for gene: STIM1 were set to Immunodeficiency 10 MIM612783\nReview for gene: STIM1 was set to GREEN\nAdded comment: recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta \r\n\r\nRx bone marrow transpant \r\n\r\nAge of onset is consistently <5 but the severity of infections is highly variable - treatment if the phenotype is severe \nSources: Expert list",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-23T21:45:59.185655+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: STK4 was added\ngene: STK4 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STK4 were set to PMID: 22294732\nPhenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868\nReview for gene: STK4 was set to GREEN\nAdded comment: primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect\r\n\r\nRx bone marrow transplant \nSources: Expert list",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-23T21:39:44.789140+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: STX16 was added\ngene: STX16 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: STX16 were set to PMID: 33247854, PMID: 34477200, PMID: 29072892\nPhenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB MIM#603233\nReview for gene: STX16 was set to GREEN\nAdded comment: characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH\r\nwithout other features of Albright hereditary osteodystrophy\r\nRx Calcium, calcitriol, levothyroxine, growth hormone \nSources: Expert list",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2023-03-23T21:16:42.904171+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SYT2 was added\ngene: SYT2 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SYT2 were set to PMID: 32250532, 32776697\nPhenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461\nReview for gene: SYT2 was set to GREEN\nAdded comment: Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.\r\n\r\nOnly report biallelic for newborn screening ?\r\nmonoallelic causes a later onset distal weakness/neuropathy phenotype - still childhood but variable or not clear - not consistently <5yrs \nSources: Expert list",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-23T21:04:35.240290+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TBL1X was added\ngene: TBL1X was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TBL1X were set to PMID: 27603907\nPhenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033\nReview for gene: TBL1X was set to GREEN\nAdded comment: Small thyroid gland \r\nDetected on newborn screening \r\nCan affect carrier females but more mildly \r\nAssociation with deafness \r\n\r\nRx thyroxine \nSources: Expert list",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2023-03-23T20:57:24.330451+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TF was added\ngene: TF was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TF were set to PMID: 32028041, PMID: 19579082, PMID: 11110675\nPhenotypes for gene: TF were set to Atransferrinemia MIM#209300\nReview for gene: TF was set to GREEN\nAdded comment: Hypochromic microcytic anaemia from absent transferrin - presents in infancy \r\n\r\n\r\nRx Red cell transfusions, deferoxamine \nSources: Expert list",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:26:38.894267+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAR1B as ready",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:26:38.886101+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sar1b has been classified as Green List (High Evidence).",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:26:27.326999+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAR1B as Green List (high evidence)",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:26:27.318943+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sar1b has been classified as Green List (High Evidence).",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:26:16.775774+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAR1B was added\ngene: SAR1B was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, gastrointestinal tags were added to gene: SAR1B.\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700\nReview for gene: SAR1B was set to GREEN\nAdded comment: Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: low-fat diet with supplementation of fat-soluble vitamins (A, D, E, and K) and oral essential fatty acid supplementation\r\n\r\nNon-genetic confirmatory testing: total cholesterol, triglyceride, LDL-cholesterol, HDL-cholesterol \nSources: Expert list",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:15:51.072283+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMD9L as ready",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:15:51.061258+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9l has been classified as Green List (High Evidence).",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:15:43.391620+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAMD9L as Green List (high evidence)",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:15:43.379604+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9l has been classified as Green List (High Evidence).",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:15:32.263535+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9L was added\ngene: SAMD9L was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological, haematological tags were added to gene: SAMD9L.\nMode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SAMD9L were set to 31306780\nPhenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550\nReview for gene: SAMD9L was set to GREEN\nAdded comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.\r\n\r\nAtaxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML).\r\n\r\nTreatment: BMT.\r\n\r\nNon-genetic confirmatory testing: no. \nSources: Expert list",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:12:22.536633+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMD9 as ready",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:12:22.526734+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9 has been classified as Green List (High Evidence).",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:12:16.341642+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAMD9 as Green List (high evidence)",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:12:16.332001+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9 has been classified as Green List (High Evidence).",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:10:58.237782+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SAMD9 were set to 31306780\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#\t617053\nReview for gene: SAMD9 was set to GREEN\nAdded comment: MIRAGE syndrome (MIRAGE) is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection.\r\n\r\nTreatment: BMT.\r\n\r\nNon-genetic confirmatory testing: no. \nSources: Expert list",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:06:46.757078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP11 as ready",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:06:46.746653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap11 has been classified as Red List (Low Evidence).",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:06:36.967935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THAP11 was added\ngene: THAP11 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THAP11 were set to 28449119\nPhenotypes for gene: THAP11 were set to Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related\nReview for gene: THAP11 was set to RED\nAdded comment: Single individual reported with homozygous missense variant, supportive functional data. \nSources: Expert Review",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:54.412138+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP11 as ready",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:54.402991+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap11 has been classified as Red List (Low Evidence).",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:50.902697+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THAP11 were changed from Combined methylmalonic acidemia and homocystinuria, cblX like 2 to Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:40.454501+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THAP11 as Red List (low evidence)",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:40.443392+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap11 has been classified as Red List (Low Evidence).",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:23.790945+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP11 as ready",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:04:23.778381+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap11 has been classified as Red List (Low Evidence).",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T19:03:43.212302+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THAP11 was added\ngene: THAP11 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THAP11 were set to 28449119\nPhenotypes for gene: THAP11 were set to Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related\nReview for gene: THAP11 was set to RED\nAdded comment: Single individual reported with homozygous missense variant, supportive functional data. \nSources: Expert Review",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:58:29.451014+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM165 as ready",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:58:29.440183+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem165 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:58:23.988672+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM165 as Amber List (moderate evidence)",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:58:23.981001+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem165 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:58:14.364458+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: TMEM165.",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:57:57.359292+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIk MIM#614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:58.040409+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF13B as ready",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:58.024394+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf13b has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:53.213212+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFRSF13B as Red List (low evidence)",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:53.202464+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf13b has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:44.713036+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TNFRSF13B.\nTag immunological tag was added to gene: TNFRSF13B.",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:03.014172+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFAIP3 as ready",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:55:03.003090+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfaip3 has been classified as Red List (Low Evidence).",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:54:57.076546+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFAIP3 as Red List (low evidence)",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:54:57.062218+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfaip3 has been classified as Red List (Low Evidence).",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2023-03-23T18:54:48.386719+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TNFAIP3.\nTag immunological tag was added to gene: TNFAIP3.",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2023-03-23T15:12:47.283167+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: THAP11 was added\ngene: THAP11 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THAP11 were set to PMID: 28449119, PMID: 31905202\nPhenotypes for gene: THAP11 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 2\nReview for gene: THAP11 was set to RED\nAdded comment: Single patient? \r\nNot in our mendeliome \r\nNot enough gene disease validity \nSources: Expert list",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2023-03-23T15:08:33.383006+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TMEM165 was added\ngene: TMEM165 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM165 were set to PMID: 28323990, PMID: 35693943, PMID: 22683087\nPhenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk MIM#614727\nReview for gene: TMEM165 was set to AMBER\nAdded comment: Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern\r\n\r\nRx D-galactose (single paper, 2 unrelated patients and an in vitro study) ?inadequete evidence for treatment? Might need to check with JC if we would offer it maybe include \nSources: Expert list",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2023-03-23T15:03:22.634808+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TNFRSF13B was added\ngene: TNFRSF13B was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNFRSF13B were set to PMID: 31681716, PMID: 18981294\nPhenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2 MIM#240500\nReview for gene: TNFRSF13B was set to RED\nAdded comment: hypogammaglobulinemia with low serum IgG, IgM, and IgA, and recurrent infections, including otitis media, respiratory tract infections, and gastrointestinal tract infections. Serum IgG and IgA were low, and serum antibody response to immunization with pneumococcal vaccine was decreased, although T cell-dependent response to tetanus toxin was normal.\r\n\r\nI think the age of onset is too variable .\r\n\r\nRx immunoglobulin \nSources: Expert list",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2023-03-23T14:56:56.336511+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TNFAIP3 was added\ngene: TNFAIP3 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNFAIP3 were set to PMID: 31587140, PMID: 33101300\nPhenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744\nReview for gene: TNFAIP3 was set to RED\nAdded comment: Average age of onset 5yrs - too variable re age of onset. \r\n\r\npainful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells. \r\n\r\nTreatment: Colchicine, glucocorticoid, mesalazine, cyclosporine, methotrexate, azathioprine, anakinra, rituximab, tocilizumab, infliximab \nSources: Expert list",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:37:30.530415+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNPC3 as ready",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:37:30.522762+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:37:17.164976+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:37:17.157418+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:37:06.855825+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNPC3 was added\ngene: RNPC3 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: RNPC3.\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 29866761; 32462814; 33650182\nPhenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160\nReview for gene: RNPC3 was set to GREEN\nAdded comment: Three unrelated individuals reported with combined and isolated pituitary hormone deficiencies, including GH and TSH.\r\n\r\nOnset: congenital.\r\n\r\nTreatment: GH, thyroxine.\r\n\r\nNon-genetic confirmatory testing: hormone levels. \nSources: Expert list",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:28:46.792467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency; Intellectual disability to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:28:05.644283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNPC3: Changed phenotypes: Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:08:16.556952+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP1 as ready",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:08:16.549993+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp1 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:08:09.344021+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASGRP1 as Green List (high evidence)",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:08:09.331838+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp1 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2023-03-23T12:07:58.027685+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASGRP1 was added\ngene: RASGRP1 was added to Baby Screen+ newborn screening. Sources: Literature\ntreatable, immunological tags were added to gene: RASGRP1.\nMode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RASGRP1 were set to Immunodeficiency 64 (MIM#618534)\nReview for gene: RASGRP1 was set to GREEN\nAdded comment: Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity.\r\n\r\nSevere disorder, fatal outcomes reported in childhood.\r\n\r\nTreatment: BMT.\r\n\r\nNon-genetic confirmatory testing: no. \nSources: Literature",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:40:26.780644+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NALCN as ready",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:40:26.752580+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nalcn has been classified as Green List (High Evidence).",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:38:59.373439+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A3 as ready",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:38:59.365345+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:37:58.692863+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIFR as ready",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:37:58.685058+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lifr has been classified as Green List (High Evidence).",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:37:28.837904+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KY as ready",
"entity_name": "KY",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:37:28.822366+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ky has been classified as Green List (High Evidence).",
"entity_name": "KY",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:36:43.353822+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF5C as ready",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:36:43.342148+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5c has been classified as Green List (High Evidence).",
"entity_name": "KIF5C",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:35:49.530043+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTN1 as ready",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:35:49.515180+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:35:43.101474+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTN1 as Amber List (moderate evidence)",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-03-23T11:35:43.091586+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
}
]
}