HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1522",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1520",
"results": [
{
"created": "2020-10-29T14:34:14.218430+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: IL10RB as Green List (high evidence)",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:34:14.205412+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:27:34.796779+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.43",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PRKRA as ready",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:27:34.786041+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.43",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: prkra has been classified as Green List (High Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:27:30.099347+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.43",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PRKRA as Green List (high evidence)",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:27:30.090994+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.43",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: prkra has been classified as Green List (High Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:26:17.407938+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.42",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MSTO1 as ready",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:26:17.397759+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.42",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:26:14.247144+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.42",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MSTO1 as Green List (high evidence)",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:26:14.239231+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.42",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:42.730140+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.41",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: XPNPEP3 as ready",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:42.711688+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.41",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:38.410697+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.41",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Amber List (moderate evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:38.395208+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.41",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:06.357191+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.40",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: UQCRC2 as ready",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:06.346265+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.40",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: uqcrc2 has been classified as Red List (Low Evidence).",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:00.734217+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.40",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: UQCRC2 as Red List (low evidence)",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:00.730625+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.40",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Single variant only, borderline amber for dx, red for screening.",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:23:00.704365+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.40",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: uqcrc2 has been classified as Red List (Low Evidence).",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:21:32.010833+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.39",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PPIB as ready",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:21:32.000074+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.39",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ppib has been classified as Green List (High Evidence).",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:21:25.559573+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.39",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PPIB as Green List (high evidence)",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:21:25.548914+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.39",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ppib has been classified as Green List (High Evidence).",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:20:48.711254+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.38",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: GALT as Green List (high evidence)",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:20:48.700089+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.38",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:17:25.778545+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.37",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:17:25.766949+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.37",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:17:21.106027+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.37",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:17:21.095138+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.37",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:16:50.741765+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.36",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SPEG as Green List (high evidence)",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:16:50.737995+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.36",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Agreed green gene, update gene selection committee at next meeting.",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:16:50.710177+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.36",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: speg has been classified as Green List (High Evidence).",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:14:50.387637+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.35",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TSPYL1 as ready",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:14:50.377313+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.35",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tspyl1 has been classified as Red List (Low Evidence).",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:12:59.664370+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.35",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TSPYL1 as Red List (low evidence)",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:12:59.661208+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.35",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:12:59.626050+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.35",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tspyl1 has been classified as Red List (Low Evidence).",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:10:36.987650+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PIP5K1C as ready",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:10:36.972119+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Red List (Low Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:10:30.999950+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Red List (low evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:10:30.994952+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:10:30.952942+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Red List (Low Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:09:30.719832+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.33",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: VAC14 was added\ngene: VAC14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAC14 were set to 27292112; 31392254; 31591492; 31387860; 31876398\nPhenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset, MIM#617054\nReview for gene: VAC14 was set to GREEN\nAdded comment: Multiple reports in unrelated patients \nSources: Expert Review",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:08:32.951070+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: AFF2 as ready",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:08:32.938644+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Red List (Low Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:08:25.600030+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: AFF2 as Red List (low evidence)",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:08:25.589000+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Red List (Low Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:01:48.957248+11:00",
"panel_name": "Myopathy Superpanel",
"panel_id": 3101,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-29T12:41:37.557045+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: PRKRA was added\ngene: PRKRA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKRA were set to 29279192; 25142429\nPhenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067\nReview for gene: PRKRA was set to GREEN\nAdded comment: Sufficient reports - most common variant is c.665C>T p.Pro222Leu, rs121434410\r\n\r\nPMID 29279192 (2017)- 7 patients in Brazilian cohort - most homozygous for P222L\r\nPMID 2514249: (2014) - 2 Polish sibs - hom for P222L \nSources: Expert Review",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2020-10-29T12:31:12.434106+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 31463572; 30684668\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675\nReview for gene: MSTO1 was set to GREEN\nAdded comment: PMID 31463572: 12 patients\r\nPMID 30684668: 2 sibs - compound het fs and missense. \nSources: Expert Review",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-10-29T12:26:03.861923+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)\r\n\r\n19890111: 2 affected sibs with hom stop-gain.\r\n22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype.\r\n\r\nSevere phenotype.; to: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)\r\n\r\n19890111: 2 affected sibs with hom stop-gain.\r\n22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity - likely to be other factors which contribute to phenotype.\r\n\r\nSevere phenotype.",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T12:25:42.945895+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T12:25:36.125232+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "commented on gene: IL10RB: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)\r\n\r\n19890111: 2 affected sibs with hom stop-gain.\r\n22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype.\r\n\r\nSevere phenotype.",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T12:25:22.532880+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 22549091; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T12:13:57.672919+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T11:52:19.555834+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: IL10RB was added\ngene: IL10RB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL10RB were set to 22549091\nPhenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657\nReview for gene: IL10RB was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T11:48:19.763892+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-10-29T11:31:57.284674+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-10-29T11:29:45.735065+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Sources: Expert Review; to: >10 cases across multiple reports, severe phenotype",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2020-10-29T11:28:03.357265+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: PPIB was added\ngene: PPIB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, #259440\nReview for gene: PPIB was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:36:10.890607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHOX2A were set to 11600883; 18323871",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:35:44.919882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16815872; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:33:04.613077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHOX2A as Green List (high evidence)",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:33:04.602448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2a has been classified as Green List (High Evidence).",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:30:53.506672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL25A1 as ready",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:30:53.498632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:30:36.679077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL25A1 were changed from to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:30:10.260981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL25A1 were set to ",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:29:41.230785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:29:02.457267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL25A1 as Amber List (moderate evidence)",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:29:02.440954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:28:40.915992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25500261, 26486031; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:27:07.387587+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL25A1 as ready",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:27:07.370112+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:27:03.821728+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5; Fibrosis of extraocular muscles, congenital, 5 616219 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:26:50.718506+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL25A1 were set to 25500261",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:23:55.418348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21A as ready",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:23:55.409149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:23:11.369642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:22:48.521052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF21A were set to ",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:22:25.982415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:22:04.701094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15621876, 15223798, 15621877, 18332320, 28930843, 27513105, 26190014, 24656932; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:20:12.062334+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21A as ready",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:20:12.053731+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Green List (High Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:20:08.857587+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:19:13.885600+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, MIM# 135700",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:18:58.737325+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:18:26.187033+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHOX2A as ready",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:18:26.172006+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2a has been classified as Green List (High Evidence).",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:18:23.307607+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, MIM# 602078",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:18:11.407759+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHOX2A were set to 14597037; 22311481; 11600883",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:15:29.275020+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:15:29.266806+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:15:22.074490+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB3 were set to 27428177; 20074521",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2020-10-29T08:15:03.752909+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2020-10-29T00:05:20.632934+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.0",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: OMID: 25500261, 26486031; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, 610004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2020-10-28T23:47:24.711294+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.0",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11600883, 14597037, 16815872; Phenotypes: Fibrosis of extraocular muscles, congenital, 2, 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-10-28T23:26:01.671919+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.0",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14595441, 28930843, 27513105, 26190014, 24656932; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, 135700, Fibrosis of extraocular muscles, congenital, 3B, 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-10-28T23:13:07.887472+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.0",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:27428177, 20074521, 26639658; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638, Cortical dysplasia, complex, with other brain malformations 1, 602661; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2020-10-28T20:28:44.592519+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GATA3 was changed from None to Other",
"entity_name": "GATA3",
"entity_type": "gene"
}
]
}