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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1724",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1722",
"results": [
{
"created": "2020-07-20T20:10:13.363139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFR2 were changed from Hemochromatosis, type 3 (MIM#604250) to Haemochromatosis, type 3 (MIM#604250)",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:09:59.079724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFR2 were changed from to Hemochromatosis, type 3 (MIM#604250)",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:09:39.100453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFR2 were set to ",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:09:10.957588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:08:25.632609+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:08:25.629854+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Enzyme is located primarily in ER, phenotypic overlap with peroxisomal disorders.",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:08:25.606973+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Amber List (Moderate Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:08:18.807709+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EBP as Amber List (moderate evidence)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:08:18.798429+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Amber List (Moderate Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:06:48.036662+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:06:48.026897+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:06:45.072231+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EBP were set to ",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:04:11.183170+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAR1 as ready",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:04:11.173322+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:03:58.450686+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAR1 as Amber List (moderate evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:03:58.444558+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:03:11.952335+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:03:11.945011+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:02:54.478944+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSE as Green List (high evidence)",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-07-20T20:02:54.469623+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-07-20T19:56:29.353806+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:AGK from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-20T18:54:59.101301+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACBD5 as ready",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:54:59.094738+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acbd5 has been classified as Green List (High Evidence).",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:54:51.957630+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy (MIM#618863)",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:54:07.188348+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACBD5 were set to ",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:53:00.385759+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:51:49.834846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD3 as ready",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:51:49.825166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:51:43.025942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD3 were changed from to Bile acid synthesis defect, congenital, 5 (MIM#616278)",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:51:26.645397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD3 were set to ",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:51:08.185746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:50:54.224751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCD3 as Amber List (moderate evidence)",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:50:54.218484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:50:33.543702+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD3 as ready",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:50:33.537065+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd3 has been classified as Red List (Low Evidence).",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:50:30.232896+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD3 were changed from to Bile acid synthesis defect, congenital, 5 (MIM#616278)",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:49:50.869968+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD3 were set to ",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:49:29.127259+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:35:31.450727+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCD3 as Red List (low evidence)",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:35:31.441546+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd3 has been classified as Red List (Low Evidence).",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:34:48.983355+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D32 as ready",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:34:48.976835+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:34:45.375881+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Amber List (moderate evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:34:45.366429+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:34:36.496570+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 32573025; 32060556\nPhenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism\nReview for gene: TBC1D32 was set to AMBER\nAdded comment: Two families reported with syndromic hypopituitarism and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:33:04.093507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to 24285566",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:32:45.677907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Amber List (moderate evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:32:45.669992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:32:30.854408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported, but phenotypes are broad, some suggestive of ciliopathy.; to: Three families reported now, but phenotypes are broad, some suggestive of ciliopathy.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:32:21.388930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBC1D32: Added comment: Three families reported, but phenotypes are broad, some suggestive of ciliopathy.; Changed rating: AMBER; Changed publications: 24285566, 32573025, 32060556; Changed phenotypes: Orofaciodigital syndrome type IX, syndromic hypopituitarism",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:28:30.043879+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to 24285566",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:27:59.970701+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Amber List (moderate evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T18:27:59.963467+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T16:50:49.669094+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.756",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129721, 15689440, 25900314; Phenotypes: CK syndrome (MIM#300831); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T16:50:03.146650+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2776",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129721, 15689440, 25900314; Phenotypes: CK syndrome (MIM#300831); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T16:25:10.456534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T16:12:09.733683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15689440; Phenotypes: CHILD syndrome (MMIM#308050); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-07-20T15:07:07.384723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24847265, 29743178; Phenotypes: Hemochromatosis, type 3 (MIM#604250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:50:47.614333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORMDL3 as ready",
"entity_name": "ORMDL3",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:50:47.607079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ormdl3 has been classified as Red List (Low Evidence).",
"entity_name": "ORMDL3",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:50:39.329706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORMDL3 as Red List (low evidence)",
"entity_name": "ORMDL3",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:50:39.319736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ormdl3 has been classified as Red List (Low Evidence).",
"entity_name": "ORMDL3",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:50:23.267760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORMDL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ORMDL3",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:49:33.182103+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: EBP was added\ngene: EBP was added to Peroxisomal Disorders. Sources: Expert Review\nMode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: EBP were set to 12509714\nPhenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant (MIM#302960)\nReview for gene: EBP was set to AMBER\nAdded comment: Well reported in females with the associated condition. \nSources: Expert Review",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:49:13.958702+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.35",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509714; Phenotypes: Chondrodysplasia punctata, X-linked dominant (MIM#302960); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-07-20T14:28:05.249339+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: FAR1 was added\ngene: FAR1 was added to Peroxisomal Disorders. Sources: Expert Review\nMode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAR1 were set to 25439727\nPhenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)\nReview for gene: FAR1 was set to AMBER\nAdded comment: 3 variants from 2 families reported with the associated phenotype in 2014 with supporting functional studies. Amber pending additional reports.\r\n\r\nPMID: 25439727: 3 siblings from 2 families affected by severe ID, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. \nSources: Expert Review",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2020-07-20T13:09:37.667714+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to Peroxisomal Disorders. Sources: Expert Review\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARSE were set to 23470839\nPhenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive (MIM#302950)\nReview for gene: ARSE was set to AMBER\nAdded comment: Well reported in males with Chondrodysplasia punctata due to deficiency of arylsulfatase E activity. \nSources: Expert Review",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-07-20T12:23:31.696205+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: AGK was added\ngene: AGK was added to Peroxisomal Disorders. Sources: Expert Review\nMode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGK were set to 22284826\nPhenotypes for gene: AGK were set to Sengers syndrome\t(MIM#212350)\nReview for gene: AGK was set to AMBER\nAdded comment: >5 families reported with Sengers syndrome, a mitochodrial condition. Unsure if qualifies for inclusion in this panel \nSources: Expert Review",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2020-07-20T12:10:53.092915+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-07-20T11:54:40.516566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3412",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ABCD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168382; Phenotypes: ?Bile acid synthesis defect, congenital, 5 (MIM#616278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T11:51:06.574055+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ABCD3: Rating: RED; Mode of pathogenicity: None; Publications: 25168382; Phenotypes: ?Bile acid synthesis defect, congenital, 5 (MIM#616278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD3",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:51:32.551945+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.193",
"user_name": "Russell Gear",
"item_type": "entity",
"text": "reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32573025, PMID: 32060556; Phenotypes: Orofacial digital syndrome type IX, syndromic hypopituitarism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:39:23.850295+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR0B1 as ready",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:39:23.842559+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:39:21.458833+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR0B1 were changed from to 46XY sex reversal 2, dosage-sensitive, MIM# 300018",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:38:59.355207+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR0B1 were set to ",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:38:37.509265+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:38:18.265542+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR0B1 as Amber List (moderate evidence)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:38:18.256221+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:37:56.579124+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NR0B1.",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-20T08:37:48.761808+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319; Phenotypes: 46XY sex reversal 2, dosage-sensitive, MIM# 300018; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:33:41.484028+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA13 as ready",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:33:41.473279+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa13 has been classified as Green List (High Evidence).",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:32:45.244328+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROKR2 as ready",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:32:45.237017+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Green List (High Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:32:42.747034+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:32:20.974849+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PROKR2 were set to ",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:32:00.130578+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:21:43.235205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSMF as ready",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:21:43.227927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmf has been classified as Red List (Low Evidence).",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:21:37.237081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSMF were changed from to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:21:20.296984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSMF were set to ",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:21:03.144576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSMF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:20:36.611740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSMF as Red List (low evidence)",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:20:36.593141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmf has been classified as Red List (Low Evidence).",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:20:20.540665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 15362570, 17235395, 21700882; Phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:19:25.436283+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSMF as ready",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:19:25.425256+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmf has been classified as Red List (Low Evidence).",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:19:22.270905+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSMF were changed from to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2020-07-18T20:18:57.424873+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSMF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSMF",
"entity_type": "gene"
}
]
}