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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1151",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1149",
"results": [
{
"created": "2021-11-01T08:49:30.450278+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, OMIM:615703 to Morbid obesity and spermatogenic failure, OMIM:615703; Bardet Biedl syndrome",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:49:18.819760+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP19 as Amber List (moderate evidence)",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:49:18.806686+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:49:08.477480+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Morbid obesity and spermatogenic failure, MIM# 615703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:46:08.539288+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:46:08.529507+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:46:06.358002+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, OMIM:615986; Obesity to Bardet-Biedl syndrome 9, MIM#615986",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:58.106803+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:46.607817+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:46.598756+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:44.354340+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, OMIM:615984 to Bardet-Biedl syndrome 7, MIM# 615984",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:36.567332+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:24.872388+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS5 as ready",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:24.861120+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs5 has been classified as Green List (High Evidence).",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:22.916748+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, OMIM:615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:14.545701+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS5 were set to ",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:03.289171+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS4 as ready",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:03.279474+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs4 has been classified as Green List (High Evidence).",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:45:01.243514+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, OMIM:615982 to Bardet-Biedl syndrome 4, MIM#615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:52.585340+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS4 were set to ",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:41.056900+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS2 as ready",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:41.047688+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Green List (High Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:38.526825+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2, OMIM:615981 to Bardet-Biedl syndrome 2, MIM# 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:30.652136+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS2 were set to ",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:19.445189+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS12 as ready",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:19.433618+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs12 has been classified as Green List (High Evidence).",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:17.512902+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12, OMIM:615989 to Bardet-Biedl syndrome 12, MIM# 615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:44:08.277219+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS12 were set to ",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:56.688938+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS10 as ready",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:56.678832+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs10 has been classified as Green List (High Evidence).",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:54.729524+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10, OMIM:615987 to Bardet-Biedl syndrome 10, MIM# 615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:47.202218+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS10 were set to ",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:34.636636+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS1 as ready",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:34.625704+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Green List (High Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:32.282880+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 to Bardet-Biedl syndrome 1 OMIM:209900; MONDO:0008854",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:43:12.714924+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS1 were set to ",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:44.994959+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL6 as ready",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:44.985453+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl6 has been classified as Green List (High Evidence).",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:43.081769+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, OMIM:600151 to Bardet-Biedl syndrome 3, MIM# 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:34.643087+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:23.948529+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data. Obesity is a feature.",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:05.123390+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:42:05.068093+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:41:57.048591+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Clinical features include: retinitis pigmentosa, deafness, obesity, and diabetes mellitus.",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.721952+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDPCP was added\ngene: WDPCP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: WDPCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDPCP were set to 26518167\nPhenotypes for gene: WDPCP were set to Congenital Obesity",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.680351+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11; 615988",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.638059+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPARG was added\ngene: PPARG was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPARG were set to [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.595079+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR0B2 was added\ngene: NR0B2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: NR0B2 was set to \nPhenotypes for gene: NR0B2 were set to Congenital Obesity; Obesity, mild, early-onset, 601665",
"entity_name": "NR0B2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.550504+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAP2 was added\ngene: MRAP2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: MRAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. \"In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations.\" \"We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data.\"; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)\nPhenotypes for gene: MRAP2 were set to Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18}",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.505320+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: MAGEL2 was set to \nPhenotypes for gene: MAGEL2 were set to Congenital Obesity",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.423350+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKR1C2 was added\ngene: AKR1C2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: AKR1C2 was set to \nPhenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay",
"entity_name": "AKR1C2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.361445+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUB was added\ngene: TUB was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUB were set to 16443771; 22618246; 24375934; 18619628; 12076089; 16643894; 8612280; 10629044; 19885003; 10196693; 22492381; 17955208 (candidate for late-onset obesity); 18183286\nPhenotypes for gene: TUB were set to ?Retinal dystrophy and obesity, OMIM:616188",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.318431+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH2B1 was added\ngene: SH2B1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SH2B1 were set to 24971614; 28663568; 23160192; 20808231\nPhenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994; obesity",
"entity_name": "SH2B1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.275528+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHIP was added\ngene: PHIP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHIP were set to 27900362; 31167805; 32492392; 29209020; 33867250\nPhenotypes for gene: PHIP were set to dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.231471+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM2L1 was added\ngene: PGM2L1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM2L1 were set to 33979636\nPhenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.189183+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KSR2 was added\ngene: KSR2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: KSR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KSR2 were set to 29273807\nPhenotypes for gene: KSR2 were set to obesity",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.142827+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP5E were set to 31173343; 19668215\nPhenotypes for gene: INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.101408+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPE was added\ngene: CPE was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766\nPhenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.059917+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP290 were set to 18327255; 23943788\nPhenotypes for gene: CEP290 were set to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:56.013327+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Obesity; Cohen syndrome, OMIM:216550",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.971592+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Obesity; Bardet-Biedl syndrome 8, OMIM:615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.928673+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIM1 was added\ngene: SIM1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIM1 were set to 24097297; 25805767; 24260538; 23778136; 16924270; 23778139; 24814368\nPhenotypes for gene: SIM1 were set to obesity; Congenital Obesity",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.885229+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to Obesity; Bardet-Biedl syndrome 16, OMIM:615993",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.843372+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMC was added\ngene: POMC was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMC were set to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.801483+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, OMIM:301900",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.759927+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCSK1 was added\ngene: PCSK1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.717529+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTRK2 was added\ngene: NTRK2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NTRK2 were set to 27884935; 29100083; 24950379; 16702999; 26629410; 26727462; 15494731\nPhenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, OMIM:613886",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.675136+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYT1L was added\ngene: MYT1L was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437\nPhenotypes for gene: MYT1L were set to obesity; Mental retardation, autosomal dominant 39, OMIM:616521",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.631204+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Obesity; Bardet-Biedl syndrome 13, OMIM:615990",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.588169+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, OMIM:605231; Obesity",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.546376+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MC4R was added\ngene: MC4R was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MC4R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MC4R were set to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.504709+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEPR was added\ngene: LEPR was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581\nPhenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.463781+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEP was added\ngene: LEP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, OMIM:614962",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.408686+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: GNAS were set to 28663568; 28453643; 27991864\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.356125+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP19 was added\ngene: CEP19 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 24268657; 29127258\nPhenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure, OMIM:615703",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.314419+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, OMIM:615986; Obesity",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.272762+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Obesity; Bardet-Biedl syndrome 7, OMIM:615984",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.232469+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Obesity; Bardet-Biedl syndrome 5, OMIM:615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.190665+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Obesity; Bardet-Biedl syndrome 4, OMIM:615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.150212+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Obesity; Bardet-Biedl syndrome 2, OMIM:615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.108724+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to obesity; Bardet-Biedl syndrome 12, OMIM:615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:55.065608+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to obesity; Bardet-Biedl syndrome 10, OMIM:615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:54.990224+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:54.949310+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6 were set to Obesity; Bardet-Biedl syndrome 3, OMIM:600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:54.902305+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome, OMIM:203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-11-01T08:24:54.874723+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Severe early-onset obesity",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-29T17:35:22.748412+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA5 as ready",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2021-10-29T17:35:22.736227+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2021-10-29T17:35:20.691236+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA5 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2021-10-29T17:35:04.812412+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COA5 as Red List (low evidence)",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2021-10-29T17:35:04.797998+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2021-10-29T17:34:56.355005+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:59:52.481357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC5B as ready",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:59:52.471516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc5b has been classified as Red List (Low Evidence).",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:59:44.443363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUC5B were changed from to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:59:25.863945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUC5B were set to ",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:59:08.962267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUC5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:58:53.059602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MUC5B as Red List (low evidence)",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:58:53.047639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc5b has been classified as Red List (Low Evidence).",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2021-10-29T15:58:36.047401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: MUC5B.",
"entity_name": "MUC5B",
"entity_type": "gene"
}
]
}