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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1858",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1856",
"results": [
{
"created": "2020-04-17T10:18:29.850707+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN2 as Green List (high evidence)",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:18:29.841903+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:18:19.617996+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTBN2 was added\ngene: SPTBN2 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTBN2 were set to 23236289; 23838597; 22781464; 31617442; 31066025\nPhenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14, MIM#\t615386; Spinocerebellar ataxia 5, MIM#\t600224\nReview for gene: SPTBN2 was set to GREEN\nAdded comment: Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia. \nSources: Expert list",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:34.480808+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:34.432622+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Green List (High Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:32.658592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTCL1 as ready",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:32.644785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:30.193456+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:17.271916+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SQSTM1 were set to ",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:15.485432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTCL1 as Amber List (moderate evidence)",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:15.471350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:12:02.190979+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:11:32.376625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTCL1 was added\ngene: MTCL1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MTCL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MTCL1 were set to 30548255; 28283581\nPhenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia; mild intellectual disability; seizures; episodic pain; spinocerebellar ataxia\nReview for gene: MTCL1 was set to AMBER\nAdded comment: Single case with a homozygous loss of function variant in a Polish study of early-onset cerebellar ataxia, and a single family with a single heterozygous missense (p.Val1435Met) identified in two family members with adult-onset spinocerebellar ataxia. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration \nSources: Expert list",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:10:52.689969+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTCL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:06:44.559773+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTCL1 as ready",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:06:44.550900+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:06:35.781736+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTCL1 as Amber List (moderate evidence)",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:06:35.768912+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:06:17.301324+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30548255, 28283581; Phenotypes: slowly progressive cerebellar ataxia, mild intellectual disability, seizures, episodic pain, spinocerebellar ataxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:49:18.234118+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STUB1 as ready",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:49:18.225520+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stub1 has been classified as Green List (High Evidence).",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:49:13.704033+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STUB1 as Green List (high evidence)",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:49:13.690765+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stub1 has been classified as Green List (High Evidence).",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:49:05.253491+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STUB1 was added\ngene: STUB1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STUB1 were set to 25258038; 24742043\nPhenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM#\t615768\nReview for gene: STUB1 was set to GREEN\nAdded comment: Onset is typically in adolescence but onset in childhood also reported. \nSources: Expert list",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:48:44.096784+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MSTO1 as ready",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:48:44.081518+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:48:39.574105+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MSTO1 as Green List (high evidence)",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:48:39.565724+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:48:28.156573+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675\nReview for gene: MSTO1 was set to GREEN\nAdded comment: Onset usually in early childhood. \nSources: Expert list",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:46:40.997085+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:46:40.982937+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:46:37.417146+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MARS2 as Green List (high evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:46:37.408532+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:46:27.254778+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARS2 was added\ngene: MARS2 was added to Ataxia - paediatric. Sources: Expert list\nSV/CNV tags were added to gene: MARS2.\nMode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390\nReview for gene: MARS2 was set to GREEN\nAdded comment: Variable age at onset (range 2 to 59 years, mean 24 years). Complex duplication rearrangements the only cause reported to date. \nSources: Expert list",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:45:15.571305+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:45:15.557836+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:45:10.176014+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNE1 as Green List (high evidence)",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:45:10.167187+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:45:00.781770+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNE1 was added\ngene: SYNE1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYNE1 were set to 23325900; 27086870\nPhenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8, MIM#\t610743\nReview for gene: SYNE1 was set to GREEN\nAdded comment: Typical onset is in adulthood, but childhood-onset cases reported. Intra-familial variability. \nSources: Expert list",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:43:01.234203+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KIF1C as ready",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:43:01.221656+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Green List (High Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:42:56.899614+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KIF1C as Green List (high evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:42:56.890454+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Green List (High Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:42:45.152573+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive MIM#611302\nReview for gene: KIF1C was set to GREEN\nAdded comment: Onset usually in adolescence. \nSources: Expert list",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:40:45.840880+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNGAP1 as ready",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:40:45.832664+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:40:03.920149+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNGAP1 were set to ",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:54.424874+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KCNC3 as ready",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:54.411939+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Green List (High Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:50.082722+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KCNC3 as Green List (high evidence)",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:50.073837+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Green List (High Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:38.446857+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNC3 was added\ngene: KCNC3 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 MIM#605259\nReview for gene: KCNC3 was set to GREEN\nAdded comment: Variable age at onset, ranging from childhood to late adulthood. \nSources: Expert list",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:16.508934+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNGAP1 as Amber List (moderate evidence)",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:16.499817+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:39:06.131178+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26989088; Phenotypes: Mental retardation, autosomal dominant 5, MIM# 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:37:53.246483+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:37:53.236502+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:37:45.514401+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ITPR1 as Green List (high evidence)",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:37:45.500711+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:37:34.576304+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITPR1 was added\ngene: ITPR1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360\nReview for gene: ITPR1 was set to GREEN\nAdded comment: Wide range of onset from birth to adulthood. \nSources: Expert list",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:34:25.351000+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FXN as ready",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:34:25.337407+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxn has been classified as Green List (High Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:34:19.095687+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FXN as Green List (high evidence)",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:34:19.082542+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxn has been classified as Green List (High Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:34:05.592240+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FXN was added\ngene: FXN was added to Ataxia - paediatric. Sources: Expert list\nSTR tags were added to gene: FXN.\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FXN were set to Friedreich ataxia MIM#229300\nReview for gene: FXN was set to GREEN\nAdded comment: Onset usually before adolescence. Most common genetic abnormality is the trinucleotide repeat expansion, but also SNVs and indels reported. \nSources: Expert list",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:27:02.393622+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D23 as ready",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:27:02.383650+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d23 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:26:59.800529+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:26:34.827103+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D23 were set to ",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:26:07.066256+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:25:35.676465+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:24:32.599830+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D23 were set to ",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:24:05.224912+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:21:17.461316+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rare cause of JBS, ataxia not specifically mentioned.; to: Rare cause of JBS, ataxia specifically mentioned in at least one individual.",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:20:58.440770+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCTN1: Changed rating: GREEN",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:20:44.847902+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCTN1 as Green List (high evidence)",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:20:44.834312+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn1 has been classified as Green List (High Evidence).",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:18:30.010670+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLVCR1 as ready",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:18:29.994583+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:18:25.088832+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLVCR1 as Green List (high evidence)",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:18:25.080239+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:18:16.328767+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLVCR1 was added\ngene: FLVCR1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa MIM#609033\nReview for gene: FLVCR1 was set to GREEN\nAdded comment: Onset usually in childhood. \nSources: Expert list",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:16:29.520194+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF14 as ready",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:16:29.511929+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf14 has been classified as Green List (High Evidence).",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:16:25.088531+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FGF14 as Green List (high evidence)",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:16:25.074817+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf14 has been classified as Green List (High Evidence).",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:16:11.823815+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGF14 was added\ngene: FGF14 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 MIM#609307\nReview for gene: FGF14 was set to GREEN\nAdded comment: Onset in late-childhood to early adulthood (12 to 20 years). \nSources: Expert list",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:12:54.623842+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13 to Joubert syndrome 13, MIM#\t614173",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:12:43.662099+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:10:21.270276+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN1 were set to ",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:10:10.700683+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCTN1 as Amber List (moderate evidence)",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:10:10.686769+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:10:00.697290+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31302911, 28631893, 21725307, 26477546; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:07:48.382273+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B5 as ready",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:07:48.371730+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:07:45.128132+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF2B5 as Green List (high evidence)",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:07:45.118870+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:07:35.639645+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2B5 was added\ngene: EIF2B5 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter MIM#603896\nReview for gene: EIF2B5 was set to GREEN\nAdded comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years). \nSources: Expert list",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:06:17.162864+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:06:17.149531+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
}
]
}