HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1537",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1535",
"results": [
{
"created": "2020-10-16T18:56:00.315199+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:54:57.486533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MICU1 as ready",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:54:57.478616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: micu1 has been classified as Green List (High Evidence).",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:54:36.914758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs, MIM# 615673",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:54:04.673431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MICU1 were set to ",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:53:31.502817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:53:00.527501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MICU1.",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:52:49.322434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:52:02.809043+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MICU1 as ready",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:52:02.794199+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: micu1 has been classified as Green List (High Evidence).",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:51:59.883187+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs, MIM# 615673",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:51:09.386213+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MICU1 were set to ",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:50:41.106053+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:50:11.697433+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:48:21.269704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MICU1 as ready",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:48:21.262044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: micu1 has been classified as Green List (High Evidence).",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:48:12.732773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs, MIM# 615673",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:47:39.383112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MICU1 were set to ",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:47:20.328548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:46:51.431540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:12:46.016691+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD3 as ready",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:12:46.007918+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:12:43.520783+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD3 were changed from to Nemaline myopathy 10, MIM# 616165",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:12:10.285848+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMOD3 were set to ",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:11:42.261613+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:11:01.533475+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29331079, 25250574, 30291184, 28815944, 30642739; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:10:07.341216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD3 as ready",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:10:07.331025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:09:31.494771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD3 were changed from to Nemaline myopathy 10, MIM# 616165",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:09:13.156449+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMOD3 were set to ",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:07:05.787644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T18:06:42.983710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25250574, 30291184, 28815944, 30642739; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:51:27.599721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIBF1 were changed from Joubert syndrome 33; OMIM #617767 to Joubert syndrome 33, OMIM #617767",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:51:01.173634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:50:19.672960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33004012; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:46:17.458357+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:45:43.025701+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIBF1: Added comment: Another family reported.; Changed publications: 26167768, 30858804, 29695797, 33004012",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:45:12.502300+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:44:33.012732+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33004012; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:42:27.013379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:35:37.268727+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.31",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: MUTATIONAL AND CLINICAL SPECTRUM: Most common variant is NM_000016.6:c.985A>G p.K329E\t(p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms. \r\n\r\nTREATMENT: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken.\r\n\r\nSummary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly. \nSources: Expert Review; to: Mutational and clinical spectrum: Most common variant is NM_000016.6:c.985A>G p.K329E\t(p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms. \r\n\r\nTreatment: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken.\r\n\r\nSummary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly. \r\nSources: Expert Review",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:08:28.115244+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.31",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Comment by Ivan Macciocca:\r\nas reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:\r\nGenetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant\r\nsegregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS.\r\n\r\nComment by Zornitza Stark: \r\nRated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.\r\n\r\nAdditional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463); to: Comment by Ivan Macciocca:\r\nas reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:\r\nGenetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant\r\nsegregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS.\r\n\r\nComment by Zornitza Stark: \r\nRated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.\r\n\r\nAdditional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463)\r\n\r\nAssociation with Long-QT is questionable. Remains GREEN for Deafness, but on balance does not currently meet inclusion criteria for Mackenzie's Mission",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:03:13.504644+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.31",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: KCNE1 as Amber List (moderate evidence)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:03:13.490036+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.31",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-10-16T17:02:54.290118+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31527855, 30936463, 31983240; Phenotypes: Long QT syndrome 5, MIM# 613695, Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Acquired LQTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:56:27.874339+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804, 33004012; Phenotypes: JOUBERT SYNDROME 33, OMIM# 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:55:14.590258+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:51:45.282400+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:51:45.253701+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:51:28.956305+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: B9D1 as Amber List (moderate evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:51:28.948605+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.30",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:50:14.946766+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.29",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:50:14.938843+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.29",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:49:58.907481+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.29",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ACADM as Green List (high evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:49:58.896655+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.29",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-10-16T16:35:29.246451+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.28",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450\nReview for gene: ACADM was set to GREEN\nAdded comment: MUTATIONAL AND CLINICAL SPECTRUM: Most common variant is NM_000016.6:c.985A>G p.K329E\t(p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms. \r\n\r\nTREATMENT: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken.\r\n\r\nSummary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly. \nSources: Expert Review",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:52:10.789803+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.28",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: B9D1 was added\ngene: B9D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature\nMode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D1 were set to 24886560; 21493627; 25920555\nPhenotypes for gene: B9D1 were set to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120\nAdded comment: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. \r\n\r\nPMID: 21493627 - 1 fetus with Meckel syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant, results cannot be used. \r\n\r\nPMID 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant \r\n\r\nSummary: 2 unrelated patients, AMBER \nSources: Literature",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:45:06.769349+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TRAC as ready",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:45:06.758506+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: trac has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:44:56.442720+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRAC as Amber List (moderate evidence)",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:44:56.434941+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: trac has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:44:20.658530+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:44:20.647948+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:42:44.694988+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SERPINA1 as ready",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:42:44.687205+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:33:50.386627+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to 26167768; 29695797; 30858804; 33004012\nPhenotypes for gene: PIBF1 were set to OMIM# 617767: JOUBERT SYNDROME 33; JBTS33\nReview for gene: PIBF1 was set to AMBER\nAdded comment: Seven Joubert families, four with the same founder variant (all Hutterite) \nSources: Literature",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:21:13.634385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4947",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33004012; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:12:36.239997+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Two individuals from two unrelated consanguinous families with same homozygous truncating variant; to: Two unrelated individuals from two consanguinous families of Pakistani origin with same homozygous truncating variant",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:12:08.553784+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: None; Publications: 21206088; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:09:06.144946+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:07:41.520680+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:06:36.120153+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:01:37.415739+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CIB2 as ready",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-10-16T15:01:37.407594+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Red List (Low Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:59:52.585181+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CIB2 as Red List (low evidence)",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:59:52.571847+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Red List (Low Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:27:03.075725+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.26",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:27:03.040344+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.26",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cbs has been classified as Red List (Low Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:26:52.118864+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.26",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CBS as Red List (low evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:26:52.110759+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.26",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cbs has been classified as Red List (Low Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-10-16T14:25:38.949625+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.25",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:49:36.972947+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH2 as ready",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:49:36.964575+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh2 has been classified as Green List (High Evidence).",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:49:22.220833+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH2 were changed from to Proximal myopathy and ophthalmoplegia, MIM# 605637",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:48:52.612401+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH2 were set to ",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:48:30.133782+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:48:00.231968+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20418530, 15548556, 24193343, 11114175, 23489661, 32578970, 29934118, 28729039, 27490141, 27177998, 17434305; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:45:39.251088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH2 as ready",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:45:39.239122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh2 has been classified as Green List (High Evidence).",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:45:31.803025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH2 were changed from to Proximal myopathy and ophthalmoplegia, MIM# 605637",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:45:10.118093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH2 were set to ",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:44:48.749907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:44:27.871483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20418530, 15548556, 24193343, 11114175, 23489661, 32578970, 29934118, 28729039, 27490141, 27177998; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:27:58.445174+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL41 as ready",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:27:58.434207+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl41 has been classified as Green List (High Evidence).",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:27:55.795510+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL41 were changed from to Nemaline myopathy 9, MIM# 615731",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:27:27.382352+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL41 were set to ",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:26:58.217724+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:26:29.395442+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-10-16T13:25:43.764798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL41 as ready",
"entity_name": "KLHL41",
"entity_type": "gene"
}
]
}