HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=842",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=840",
"results": [
{
"created": "2022-05-13T19:05:27.742528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAC were set to ",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-05-13T19:05:07.829460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-05-13T19:04:45.359907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232, 25356899, 35266333; Phenotypes: Desanto-Shinawi syndrome, MIM# 616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-05-13T17:07:31.021788+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.799",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-13T17:07:28.291544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14244",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:31:28.230026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FXYD2 as ready",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:31:28.219730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxyd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:30:33.697963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FXYD2 were changed from to Renal hypomagnesemia 2 MONDO:0007937",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:26:54.284593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FXYD2 were set to ",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:24:25.862191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FXYD2 was changed from to Other",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:21:52.716795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14241",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FXYD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:19:29.282564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FXYD2 as Amber List (moderate evidence)",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:19:29.272730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxyd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:18:57.614834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FXYD2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 17980699, 12763862, 18448590, 11062458, 25765846, 27014088; Phenotypes: Renal hypomagnesemia 2 MONDO:0007937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:13:01.178657+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPPLY2 as ready",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:13:01.165490+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripply2 has been classified as Green List (High Evidence).",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:12:55.956111+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPPLY2 were changed from Spondylocostal dysostosis 6 - 616566 to Spondylocostal dysostosis 6, MIM# 616566",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:09:57.893803+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPPLY2 were set to 25343988; 26238661",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:09:22.415225+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPPLY2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:08:49.845203+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPPLY2 as Green List (high evidence)",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:08:49.831849+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripply2 has been classified as Green List (High Evidence).",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:08:28.826102+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPPLY2 as Green List (high evidence)",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:08:28.813004+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripply2 has been classified as Green List (High Evidence).",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:08:14.396879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPPLY2 as ready",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:08:14.384584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripply2 has been classified as Green List (High Evidence).",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:07:57.674206+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25343988, 33410135, 32212228, 29761784; Phenotypes: Spondylocostal dysostosis 6, MIM# 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:07:40.975050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPPLY2 were changed from to Spondylocostal dysostosis 6, MIM# 616566",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:07:19.706149+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPPLY2 were set to ",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:06:57.404597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPPLY2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:06:35.902745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIPPLY2: Changed rating: GREEN",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:06:16.995304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIPPLY2: Rating: ; Mode of pathogenicity: None; Publications: 25343988, 33410135, 32212228, 29761784; Phenotypes: Spondylocostal dysostosis 6, MIM# 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:02:29.043211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FXN as ready",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-05-13T15:02:29.029778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxn has been classified as Green List (High Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:58:33.246295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOC as ready",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:58:33.236793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myoc has been classified as Green List (High Evidence).",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:58:16.344577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOC were changed from to Glaucoma 1A, primary open angle, MIM# 137750",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:57:48.807960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYOC were set to ",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:57:26.610349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYOC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:57:06.686220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9005853, 9535666, 15108121; Phenotypes: Glaucoma 1A, primary open angle, MIM# 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:53:38.089807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:53:15.663497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYOCD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:52:57.360200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females.\r\n\r\nSeven affected males from three families. Five females and one male with the variant were unaffected, suggesting incomplete penetrance.\r\n\r\nAdditional family in PMID 35005812 as part of a large prenatal renal cohort.; to: Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females.\r\n\r\nSeven affected males from three families. Five females and one male with the variant were unaffected, suggesting incomplete penetrance.\r\n\r\nAdditional family in PMID 35005812 as part of a large prenatal renal cohort.\r\n\r\nMono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). \r\n\r\nMouse models.",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:50:40.915727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOCD as ready",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:50:40.904353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:50:32.095346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOCD were changed from to Megabladder, congenital, MIM# 618719",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:50:06.940035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYOCD were set to ",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:33:46.714258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYOCD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:33:26.520160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYOCD: Changed phenotypes: Megabladder, congenital, MIM# 618719",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:33:14.996943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513549, 35005812; Phenotypes: Megabladder, congenital, MIM3 618719; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:27:17.842612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOT as ready",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:27:17.833361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myot has been classified as Green List (High Evidence).",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:26:55.737234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOT were changed from to Myopathy, myofibrillar, 3, MIM# 609200; Myopathy, spheroid body, MIM# 182920",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:26:34.818456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYOT were set to ",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:26:12.131952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYOT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:25:50.674128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYOT: Rating: GREEN; Mode of pathogenicity: None; Publications: 10958653, 15111675, 16380616, 33250842, 32509353, 29924655; Phenotypes: Myopathy, myofibrillar, 3, MIM# 609200, Myopathy, spheroid body, MIM# 182920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:12:22.449941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14226",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FXN were changed from to Friedreich ataxia MONDO:0100339",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:09:03.499927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FXN were set to ",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:06:12.490453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14224",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:05:19.871313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FXN: Added comment: Well-established gene-disease association. 96% of cases are caused by biallelic intronic GAA triplet repeat expansion and 4% are attributable to biallelic single nucleotide variants and small indels. Loss of function is the mechanism of disease.; Changed rating: GREEN; Changed publications: 20301458, 26704351; Changed phenotypes: Friedreich ataxia MONDO:0100339; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-05-13T14:03:52.699238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14223",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RNF139: Rating: RED; Mode of pathogenicity: None; Publications: 9689122; Phenotypes: Renal cell carcinoma MIM#144700; Mode of inheritance: Other",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:59:05.859348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FUT8 as ready",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:59:05.847776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:56:10.892693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FUT8 were changed from to Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:51:38.464197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FUT8 were set to ",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:49:01.774523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUT8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:46:14.251775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FUT8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29304374, 34389986, 32049367, 16236725; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:33:30.911938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FUT1 as ready",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:33:30.896887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fut1 has been classified as Red List (Low Evidence).",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:30:00.815809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FUT1 were changed from to [Bombay phenotype] MIM#616754",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:27:25.821010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FUT1 as Red List (low evidence)",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:27:25.816592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Biallelic loss of function variants produce the Bombay blood group, which is a recessive H-deficient red blood cell phenotype. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion. No evidence for Mendelian disease associated with this gene.",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:27:25.787427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fut1 has been classified as Red List (Low Evidence).",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:23:49.328819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:22:55.158206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FUT1 were set to ",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:14:39.068594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FUT1 as Red List (low evidence)",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:14:39.063157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Biallelic loss of function variants cause Bombay phenotype, which is a recessive H-deficient red blood cell phenotype. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion. No evidence for Mendelian disease associated with this gene.",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:14:39.010727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fut1 has been classified as Red List (Low Evidence).",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T13:09:13.976160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUT1",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:35:21.690609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FSHR as ready",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:35:21.674043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fshr has been classified as Green List (High Evidence).",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:34:51.551827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FTO as ready",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:34:51.541594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fto has been classified as Green List (High Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:34:34.227588+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTO were set to 19559399; 26378117",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:34:18.705855+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTO as Green List (high evidence)",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:34:18.693327+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fto has been classified as Green List (High Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:33:59.350081+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:33:08.764292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTO were set to ",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:32:48.582585+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4768",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTO were set to 19559399; 26378117",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:30:25.006439+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTO as Green List (high evidence)",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:30:24.980360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fto has been classified as Green List (High Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:29:41.639132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:29:23.106903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism MIM#612938",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:27:37.592085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T12:24:55.335555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:44:38.775499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS1 as ready",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:44:38.759787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims1 has been classified as Green List (High Evidence).",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:42:45.340665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS1 were changed from to Cone-rod dystrophy 7 , MIM#603649; Autism MONDO:0005260",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:42:22.786275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIMS1 were set to ",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:41:56.833648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:41:36.907202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12659814, 25284784, 25961944; Phenotypes: Cone-rod dystrophy 7 , MIM#603649, Autism MONDO:0005260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
}
]
}