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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1147",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1145",
"results": [
{
"created": "2021-11-03T16:47:49.748616+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:45:20.844583+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH11 as ready",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:45:20.833257+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah11 has been classified as Green List (High Evidence).",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:45:18.369630+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH11 were changed from Congenital heart diseases; heterotaxy to Congenital heart diseases; Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:44:51.335538+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH11 were set to PMID: 31040315; 32633470",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:43:49.551201+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH11 as Green List (high evidence)",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:43:49.540084+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah11 has been classified as Green List (High Evidence).",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:43:25.050120+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:42:25.310220+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPE were changed from BDV syndrome, MIM# 619326 to BDV syndrome, MIM# 619326; Intellectual developmental disorder and hypogonadotropic hypogonadism",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:42:05.821517+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPE as ready",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:42:05.810660+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Green List (High Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:41:51.681931+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 to BDV syndrome, MIM# 619326",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:41:29.381875+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:41:17.162758+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPE as Green List (high evidence)",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:41:17.151892+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Green List (High Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-03T15:40:02.007663+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: TUB: Rating: RED; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: ?Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T15:30:58.679023+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: SH2B1: Rating: RED; Mode of pathogenicity: None; Publications: 19079260, 32251290, 33214137; Phenotypes: Chromosome 16p11.2 deletion syndrome, 220kb 613444; Mode of inheritance: None",
"entity_name": "SH2B1",
"entity_type": "gene"
},
{
"created": "2021-11-03T14:58:44.705035+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29209020, 27900362, 23033978; Phenotypes: Chung-Jansen syndrome 617991; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-03T14:44:11.892792+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33979636; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-03T14:23:11.521385+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: KSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24209692, 29273807, 28180061, 24997067; Phenotypes: Obesity; Mode of inheritance: None",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T10:41:50.825693+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-11-03T09:41:33.596686+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.135",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH11 were set to PMID: 31040315; 32633470\nPhenotypes for gene: DNAH11 were set to Congenital heart diseases; heterotaxy\nReview for gene: DNAH11 was set to GREEN\nAdded comment: Compound het DNAH11 variants reported in 7 families with congenital heart diseases and heterotaxy. \r\n\r\nBiallelic DNAH11 variants commonly reported in patients with primary ciliary dyskinesia. \nSources: Literature",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-11-03T09:21:13.118730+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 26120850, 32936766, 34383079; Phenotypes: BDV syndrome 619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:45:48.282599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPS as ready",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:45:48.272773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agps has been classified as Green List (High Evidence).",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:45:40.391486+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPS were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:45:23.439936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a skeletal dysplasia, intellect typically normal.; to: Variants in this gene cause a skeletal dysplasia, including congenital contractures.",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:45:06.034733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGPS: Changed rating: GREEN",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:44:12.552129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGL as ready",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:44:12.541310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agl has been classified as Red List (Low Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:44:08.938137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGL were changed from GLYCOGEN STORAGE DISEASE TYPE III to Glycogen storage disease IIIa, MIM# 232400",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:43:54.732433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGL as Red List (low evidence)",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:43:54.716521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agl has been classified as Red List (Low Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:43:41.896694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Presentation is typically with muscle, liver and cardiac involvement.; to: Presentation is typically with muscle, liver and cardiac involvement, can be childhood, but many are in adulthood.",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:40:11.700725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:40:11.688193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-11-01T17:40:08.017230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 1, MIM#243310",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:50:02.589987+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAPER as ready",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:50:02.578193+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:49:56.713691+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:49:56.703648+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:49:47.171387+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCAPER was added\ngene: SCAPER was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319\nPhenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome\nReview for gene: SCAPER was set to GREEN\nAdded comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly. \nSources: Expert list",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:48:32.551474+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTFL1 as ready",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:48:32.542786+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztfl1 has been classified as Green List (High Evidence).",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:48:24.994182+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LZTFL1 as Green List (high evidence)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:48:24.975396+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztfl1 has been classified as Green List (High Evidence).",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:48:16.623048+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)\nReview for gene: LZTFL1 was set to GREEN\nAdded comment: 3 variants reported in 2 unrelated families, with supporting functional studies. Borderline amber/green\r\n\r\nPMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad\r\n\r\nPMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.\r\n\r\nPMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.\r\n\r\nPMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking \nSources: Expert list",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:46:54.536355+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:46:54.527550+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:46:50.304605+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:46:50.294031+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:46:42.041627+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 27486776; 32144365\nPhenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119\nReview for gene: IFT74 was set to GREEN\nAdded comment: Two families and a zebrafish model. \nSources: Expert list",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:45:45.912817+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT27 as ready",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:45:45.900681+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:45:29.690947+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT27 as Green List (high evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:45:29.678031+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:45:21.603060+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT27 was added\ngene: IFT27 was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296\nPhenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996\nReview for gene: IFT27 was set to GREEN\nAdded comment: Three families; two with the same variant; functional data. \nSources: Literature",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:44:29.500504+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:44:29.489566+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:44:25.128223+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT172 as Green List (high evidence)",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:44:25.117224+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:44:18.172250+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT172 were set to 30761183; 26763875; 25168386\nPhenotypes for gene: IFT172 were set to Bardet-Biedl syndrome 20, MIM# 619471\nReview for gene: IFT172 was set to GREEN\nAdded comment: Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well. \nSources: Expert list",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:43:09.725984+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:43:09.714485+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:43:05.955707+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP164 as Green List (high evidence)",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:43:05.945650+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:42:58.253390+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP164 was added\ngene: CEP164 was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007\nPhenotypes for gene: CEP164 were set to Bardet-Biedl syndrome\nReview for gene: CEP164 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Obesity is a feature of BBS. \nSources: Expert list",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:41:46.274762+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8orf37 as ready",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:41:46.263407+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:41:38.865568+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8orf37 as Amber List (moderate evidence)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:41:38.854564+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:41:31.104576+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8orf37 was added\ngene: C8orf37 was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C8orf37 were set to 27008867; 26854863\nPhenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406\nReview for gene: C8orf37 was set to AMBER\nAdded comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well. Obesity is a feature of BBS. \nSources: Expert list",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:40:13.321702+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBIP1 as ready",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:40:13.312001+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:40:04.193621+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBIP1 as Amber List (moderate evidence)",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:40:04.183650+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:39:55.122652+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBIP1 was added\ngene: BBIP1 was added to Severe early-onset obesity. Sources: Expert list\nMode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBIP1 were set to 24026985\nPhenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995\nReview for gene: BBIP1 was set to AMBER\nAdded comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.\r\n\r\nPMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD\r\n\r\nOnly one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.\r\n\r\nObesity is a feature of BBS. \nSources: Expert list",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:38:11.002762+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:38:10.991356+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Green List (High Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:36:39.307413+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, OMIM:216550 to Cohen syndrome MIM#216550",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:36:31.316321+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13B were set to ",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:36:15.116593+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC8 as ready",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:36:15.106048+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc8 has been classified as Green List (High Evidence).",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:36:12.369652+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, OMIM:615985 to Bardet-Biedl syndrome 8, MIM# 615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:36:03.042555+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC8 were set to ",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:35:31.324742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIM1 were changed from to congenital obesity; Prader-Willi-like syndrome",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:35:11.598182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIM1 were set to ",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:34:51.472059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:34:34.423278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIM1 as Green List (high evidence)",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:34:34.412817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sim1 has been classified as Green List (High Evidence).",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:34:13.827458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:34:05.636887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIM1: Added comment: At least 20 probands with reduced penetrance reported.\r\n\r\nPMID:33434169;\r\n1x missense inherited from normal mother\r\n\r\nPMID:30926952;\r\n2x unrelated - 1 missense 1 splice. Family history noted\r\n\r\nPMID:23778136;\r\n4 children with clinical features of PWL syndrome, including severe obesity - all missense\r\n1x inherited from normal father \r\n\r\nPMID:23778139;\r\nat least 13 families with segregation and reduced penetrance evidence - all missense\r\nIn vitro luciferase done to show LoF\r\n\r\nNOTE:\r\nIndividuals with Prader-Willi-like phenotype may have 6q16.2del instead, which encompasses SIM1; Changed rating: GREEN; Changed publications: 33434169, 30926952, 23778136, 23778139; Changed phenotypes: congenital obesity, Prader-Willi-like syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:33:09.309981+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIM1 as ready",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:33:09.300431+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sim1 has been classified as Green List (High Evidence).",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:33:07.383379+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIM1 were changed from obesity; Congenital Obesity to congenital obesity; Prader-Willi-like syndrome",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:31:49.404386+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:31:49.391509+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:31:47.076568+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16, OMIM:615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:31:39.246679+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-11-01T16:31:15.493739+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMC as ready",
"entity_name": "POMC",
"entity_type": "gene"
}
]
}