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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1830",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1828",
"results": [
{
"created": "2020-04-20T20:19:34.286943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FEM1B as ready",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:19:34.282906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree cannot be confident these represent three unrelated families.",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:19:34.252096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fem1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:19:14.872431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FEM1B were changed from Syndromic global developmental delay to Syndromic intellectual disability",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:18:55.130842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FEM1B as Amber List (moderate evidence)",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:18:55.121915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fem1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:17:16.632486+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC44A1 as ready",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:17:16.628167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Progressive neurodegenerative disorder rather than true intellectual disability. The first characteristic neurological abnormalities were noted between the ages of 2–8 years. Cardinal features included tremor, dysarthria, swallowing difficulties, ataxia, truncal muscle weakness, strabismus, and decreased visual acuity.",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:17:16.597991+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:12:21.410384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WIPI2 was added\ngene: WIPI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WIPI2 were set to 30968111\nPhenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453\nReview for gene: WIPI2 was set to RED\nAdded comment: Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function. \nSources: Literature",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:09:25.731536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WIPI2 as Red List (low evidence)",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:09:25.719022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipi2 has been classified as Red List (Low Evidence).",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:08:15.410763+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC31A as ready",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:08:15.401673+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:08:10.584845+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Amber List (moderate evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:08:10.576232+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:07:58.784469+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC31A was added\ngene: SEC31A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to 30464055\nPhenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM#\t618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive\nReview for gene: SEC31A was set to AMBER\nAdded comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila. \nSources: Literature",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:06:37.308120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC31A as ready",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:06:37.295853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:06:27.819689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC31A were changed from congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM#\t618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:05:32.551990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Amber List (moderate evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:05:32.534082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:04:21.685064+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC44A1 as ready",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:04:21.674377+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:04:17.164655+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC44A1 as Green List (high evidence)",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:04:17.149291+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:03:12.123563+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC44A1 was added\ngene: SLC44A1 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC44A1 were set to 31855247\nPhenotypes for gene: SLC44A1 were set to Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria\nReview for gene: SLC44A1 was set to GREEN\nAdded comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial. \nSources: Literature",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:01:27.807190+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC44A1 as ready",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:01:27.795934+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:01:22.930979+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC44A1 as Green List (high evidence)",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:01:22.918322+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:01:13.728913+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC44A1 was added\ngene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC44A1 were set to 31855247\nPhenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria\nReview for gene: SLC44A1 was set to GREEN\nAdded comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial. \nSources: Literature",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:59:17.551561+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC44A1 as ready",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:59:17.538483+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:59:14.641006+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC44A1 as Green List (high evidence)",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:59:14.631380+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:58:45.636170+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC44A1 was added\ngene: SLC44A1 was added to Regression. Sources: Literature\nMode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC44A1 were set to 31855247\nPhenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria\nReview for gene: SLC44A1 was set to GREEN\nAdded comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial. \nSources: Literature",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:56:48.567273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC44A1 as ready",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:56:48.563107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Childhood onset neurodegeneration",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:56:48.532224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:56:06.607097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC44A1 as Green List (high evidence)",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T19:56:06.597738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc44a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC44A1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:52:31.263831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMCHD1 as ready",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:52:31.259423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:52:31.228067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smchd1 has been classified as Green List (High Evidence).",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:50:45.007034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:49:42.974535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMCHD1 were set to ",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:49:24.084126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:48:36.346069+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKL5 as ready",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:48:36.332622+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Green List (High Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:48:33.605989+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:48:11.789944+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to ",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:47:36.129276+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:47:04.883919+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27080038, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:46:47.839294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKL5 as ready",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:46:47.827021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Green List (High Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:45:53.417153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:45:37.401203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to ",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:45:23.565297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:44:53.985929+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSX2 as ready",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:44:53.976575+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:44:11.428682+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSX2 as Amber List (moderate evidence)",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:44:11.415364+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:43:42.533983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AEBP1 as ready",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:43:42.521778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aebp1 has been classified as Green List (High Evidence).",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:43:34.476324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:43:20.144834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AEBP1 were set to ",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:43:06.179010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:42:46.679150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:41:14.478839+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AEBP1 as ready",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:41:14.466399+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aebp1 has been classified as Green List (High Evidence).",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T18:32:14.714760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: SLC6A6 was added\ngene: SLC6A6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A6 were set to 31345061; 31903486; 29886034\nPhenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy\nReview for gene: SLC6A6 was set to AMBER\nAdded comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486)\r\n\r\nOne dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034). \nSources: Literature",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T17:55:15.547649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30358850; Phenotypes: perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-04-20T17:42:46.651010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: TMPRSS9 was added\ngene: TMPRSS9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS9 were set to 31943016\nPhenotypes for gene: TMPRSS9 were set to autism spectrum disorder\nReview for gene: TMPRSS9 was set to RED\nAdded comment: Association with Mendelian disease not established. \r\n\r\nIs a candidate gene for autism spectrum disorder: single patient, compound heterozygous nonsense variants. Functional studies showed Tmprss9 gene is expressed in mouse brain, knockout mice had decreased social interest and social recognition. (PMID: 31943016) \nSources: Literature",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2020-04-20T17:23:37.037685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: MCAT was added\ngene: MCAT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCAT were set to 31915829\nPhenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy\nReview for gene: MCAT was set to RED\nAdded comment: One family reported - a consanguineous family, two homozygous missense variants in both affected siblings. Functional studies showed both missense together have synergic impact on MCAT protein misfolding; p.(L81R) had more impact on MCAT protein expression reduction than did the p.(R212W); some study in conditional knockout mice. (PMID:31915829) \nSources: Literature",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:38:10.126269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2544",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: MAB21L1: Changed rating: GREEN",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:25:16.869785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:24:36.128926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: CAP2: Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.; Changed rating: RED",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:22:15.121477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:21:51.391855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: WIPI2: Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.; Changed rating: RED; Changed phenotypes: Intellectual developmental disorder with short stature and variable skeletal anomalies 618453",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:18:07.629367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Segregates with disease in 3 consanguineous families from Pakistan/Turkey and one non-consanguineous family of Swiss origin. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation.; to: Segregates with disease in 3 consanguineous families from Pakistan/Turkey with global eye abnormalities, and one non-consanguineous family of Swiss origin with optic nerve hypoplasia. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation (in mice).",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:15:52.917784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:15:06.050298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:14:00.111059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31203368; Phenotypes: hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:10:48.483113+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSX2 as ready",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:10:48.473838+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:06:37.473198+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome, classic-like, 2, MIM#\t618000 to Ehlers-Danlos syndrome, classic-like, 2, MIM#\t618000",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:06:18.201148+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM#\t618000",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:05:27.870741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067; Phenotypes: Intellectual disability, cerebral polymicrogyria, primary microcephaly, growth defects, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:04:53.663728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 2 (\"apparently\") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice. \nSources: Literature; to: 2 apparently unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice. \r\nSources: Literature",
"entity_name": "PKDCC",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:04:22.719729+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AEBP1 were set to ",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:03:28.559717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:03:24.204437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:02:59.296655+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AEBP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:02:08.872394+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSX2 was added\ngene: GSX2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSX2 were set to 31412107\nPhenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2\t618646; Intellectual disability; Dystonia; Spastic tetra paresis\nReview for gene: GSX2 was set to AMBER\nAdded comment: Two unrelated families, some functional data. \nSources: Literature",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:02:07.878735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2440",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Myopathy, immunodeficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:00:48.164972+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSX2 as ready",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:00:48.151908+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:00:41.764634+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSX2 as Amber List (moderate evidence)",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2020-04-20T16:00:41.751845+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSX2",
"entity_type": "gene"
}
]
}