HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1861",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1859",
"results": [
{
"created": "2020-04-16T09:38:32.144037+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca8 has been classified as Green List (High Evidence).",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:38:19.101665+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:37:59.215486+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUTS2 were set to ",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:36:41.050125+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:36:14.258053+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUTS2 as Red List (low evidence)",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:36:14.248845+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Red List (Low Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:35:15.355976+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUTS2 as Amber List (moderate evidence)",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:35:15.342876+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:34:43.125816+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AUTS2.",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:33:35.778252+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:33:34.788799+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:33:34.775926+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:32:43.692685+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GALNT2 as Green List (high evidence)",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:32:43.678912+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:32:30.894854+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAA as ready",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:32:30.885790+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:31:25.549125+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA8 as Green List (high evidence)",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:31:25.540133+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca8 has been classified as Green List (High Evidence).",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:30:03.231751+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:27:51.104288+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN4IP1 as ready",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:27:51.095380+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Green List (High Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:25:45.543788+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAA were set to ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:25:32.901490+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A2 as ready",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:25:32.892326+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:25:21.819937+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RTN4IP1 as Green List (high evidence)",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:25:21.810488+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Green List (High Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:24:31.698162+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PBX1 as ready",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:24:31.692011+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, cannot find evidence of association with OA.",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:24:31.645743+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pbx1 has been classified as Red List (Low Evidence).",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:24:14.261657+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:23:51.874047+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLAA as Amber List (moderate evidence)",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:23:51.861001+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plaa has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:22:01.864136+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:21:11.067111+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFF as ready",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:21:11.062969+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder.",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:21:11.031833+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Green List (High Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:20:46.137271+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFF as Green List (high evidence)",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:20:46.124225+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Green List (High Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:19:47.583572+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC52A2 as Green List (high evidence)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:19:47.570353+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:19:39.957443+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDXR as ready",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:19:39.948874+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Green List (High Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:19:03.038874+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PBX1 were set to ",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:18:40.910151+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:18:40.905245+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Please note OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:18:40.855999+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Green List (High Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:18:20.633940+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:18:01.250691+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:17:29.407847+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PBX1 as Red List (low evidence)",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:17:29.398812+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pbx1 has been classified as Red List (Low Evidence).",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:15:53.839808+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDXR were set to ",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:15:29.228322+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:14:25.993664+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:14:07.936783+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM8A as ready",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:14:07.925996+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:13:38.422010+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome (MIM#304700)",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:13:00.308417+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:12:02.101479+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:10:47.904018+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMM8A were set to ",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:10:20.356989+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:10:20.352773+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: OA associated both with mono-allelic and bi-allelic variants in this gene, and has been reported in families both with SPG and NBIA.",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:10:20.320568+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:09:37.268685+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C19orf12 as Green List (high evidence)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:09:37.255663+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:08:22.049172+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:07:58.763646+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMM8A as Amber List (moderate evidence)",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:07:58.750101+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:06:44.624471+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:06:44.618499+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note there is only evidence for association between bi-allelic variants and OA, and even so, the evidence is limited.",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:06:44.572954+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:06:40.626680+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal recessive 1 258450",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:06:17.207927+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:05:29.229836+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:05:02.527918+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Amber List (moderate evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:05:02.514048+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:03:39.625556+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1L as ready",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:03:39.612229+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:03:36.682985+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNM1L as Green List (high evidence)",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T09:03:36.673829+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:19:29.543015+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC18A2 as ready",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:19:29.533789+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:19:25.098868+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC18A2 as Green List (high evidence)",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:19:25.088338+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:18:56.962360+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A2 was added\ngene: SLC18A2 was added to Neurotransmitter Defects. Sources: Expert Review\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to 23363473; 31240161; 26497564; 9427250; 11463816; 9427251\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM#\t618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. Three mouse models. \nSources: Expert Review",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:15:05.750019+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC18A2 as ready",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:15:05.736025+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:14:58.555473+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC18A2 as Green List (high evidence)",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:14:58.546012+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T08:14:50.463527+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A2 was added\ngene: SLC18A2 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to 23363473; 31240161; 26497564\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM#\t618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. \nSources: Expert Review",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:30:38.840184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX2 as ready",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:30:38.833843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:30:38.802265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:30:25.994800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX2 as Amber List (moderate evidence)",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:30:25.984403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:30:11.595679+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Two unrelated families reported.; to: Comment when marking as ready: Two unrelated families reported. The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:29:30.370663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX2 was added\ngene: ACOX2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACOX2 were set to 27647924; 27884763\nPhenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308\nReview for gene: ACOX2 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert Review",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:28:00.727838+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX2 as ready",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:28:00.721366+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two unrelated families reported.",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:28:00.673582+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:27:49.802282+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX2 as Amber List (moderate evidence)",
"entity_name": "ACOX2",
"entity_type": "gene"
}
]
}