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{
"count": 220806,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1604",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1602",
"results": [
{
"created": "2020-09-07T15:53:42.893548+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:41.802819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:27.186209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4253",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:19.345284+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Classified gene: MYT1L as Green List (high evidence)",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:19.333609+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:44.386464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SVIL as ready",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:44.382541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two unrelated families only.",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:44.353164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svil has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:26.303848+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.20",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: HSPA9 as Green List (high evidence)",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:26.292615+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.20",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:13.872047+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.19",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Achromatopsia. Sources: Literature\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 32869452; 26598328\nPhenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose\nPenetrance for gene: HSPA9 were set to Complete\nReview for gene: HSPA9 was set to GREEN\nAdded comment: Biallelic variants cause a syndromic skeletal dysplasia with small nose, microtia and cardiac and renal malformations.\r\n2/5 have developmental delay and corpus callosum anomalies \nSources: Literature",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:01.370962+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.108",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "gene: MYT1L was added\ngene: MYT1L was added to Autism. Sources: Literature\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYT1L were set to PMID: 32065501\nReview for gene: MYT1L was set to GREEN\nAdded comment: 9 new cases reported bringing total to 51, some of which are larger CNVs including additional genes (2p25.3 deletion syndrome). Of those with microdeletion or SNV of MYT1L only, 66.7% (12/18) had autism. \nSources: Literature",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:51:49.387117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SVIL as Amber List (moderate evidence)",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:51:49.379034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svil has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:48:12.437506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:47:53.688956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: 21574244, 32764743; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:46:35.042727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Sue White",
"item_type": "entity",
"text": "reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26598328, 32869452; Phenotypes: https://www.omim.org/entry/616854, skeletal anomalies, congenital cardiac and renal anomalies: marked small nose; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:46:32.907204+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP57 were changed from to Van der Woude Syndrome; Primary ciliary dyskinesia",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:46:12.120913+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP57 were set to ",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:44:43.387188+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYT1L as ready",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:44:43.376807+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:44:37.305480+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYT1L as Green List (high evidence)",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:44:37.295447+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:44:02.537839+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYT1L was added\ngene: MYT1L was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYT1L were set to 32065501\nPhenotypes for gene: MYT1L were set to Mental retardation, autosomal dominant 39, MIM# 616521\nReview for gene: MYT1L was set to GREEN\nAdded comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. 66% in a recent cohort had seizures. \nSources: Literature",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:41:20.289701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: SVIL was added\ngene: SVIL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVIL were set to 32779703\nPhenotypes for gene: SVIL were set to myopathy\nPenetrance for gene: SVIL were set to unknown\nReview for gene: SVIL was set to GREEN\nAdded comment: Four patients from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot. \nSources: Literature",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:41:18.274932+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2969",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:41:18.266017+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2969",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:40:47.337649+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2968",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:37:57.079707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPA9: Changed publications: 26491070",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:37:33.597473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSPA9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 4, MIM# 182170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:36:08.599190+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: COL27A1 as Green List (high evidence)",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:36:08.589612+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: col27a1 has been classified as Green List (High Evidence).",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:35:38.458727+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.43",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: COL27A1 as Green List (high evidence)",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:35:38.450476+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.43",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: col27a1 has been classified as Green List (High Evidence).",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:35:37.066591+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: COL27A1 as ready",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:35:37.055716+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: col27a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:34:56.166480+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: COL27A1 was added\ngene: COL27A1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL27A1 were set to 24986830; 28276056; 28322503\nPhenotypes for gene: COL27A1 were set to OMIM #615155 Steel Syndrome",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:34:15.762173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: CFAP58 was added\ngene: CFAP58 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CFAP58 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP58 were set to 32791035\nPhenotypes for gene: CFAP58 were set to Multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 32791035)\nReview for gene: CFAP58 was set to AMBER\nAdded comment: 5 unrelated males reported with biallelic loss of function variants. Knockout mice were infertile (Abstract only) \nSources: Expert Review",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:33:06.264258+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.123",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.\r\n\r\nPMID: 21574244 - patient with a heterozygous missense and Van der Woude Syndrome. Classed in OMIM as a VUS.\r\n\r\nPMID: 32764743 - one homozygous patient p.(Arg588*) w/ PCD - variant results in the skipping of exon 11 (58 amino acids), which may be due to disruption of an exonic splicing enhancer. Functional studies on Chlamydomonas animal model is defective. Potentially the same patient as bioRxiv; Changed publications: PMID: 21574244, 32764743",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:30:19.578965+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MYT1L.",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:29:54.220860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MYT1L.",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:29:37.337638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYT1L were set to 28859103",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:29:12.676508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYT1L: Added comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems.; Changed publications: 28859103, 32065501",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:26:57.866852+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYT1L were set to 28859103",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:25:55.313030+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32065501; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:00:07.682670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1A as ready",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:00:07.673621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Green List (High Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:59:51.451851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome 2 (MIM#614607)",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:59:32.303332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID1A were set to ",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:59:13.224763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:58:27.119293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE10A as ready",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:58:27.107887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde10a has been classified as Green List (High Evidence).",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:58:19.092855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Striatal degeneration, autosomal dominant, MIM# 616922",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:58:03.687848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE10A were set to ",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:57:47.300399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE10A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:57:27.953767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446, 27058447; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921, Striatal degeneration, autosomal dominant, MIM# 616922; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:50:22.855321+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:49:53.431560+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay \nSources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:49:33.374995+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:49:28.994347+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:49:11.453241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYSM1 were set to 4288411; 28115216; 26220525",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:48:50.937313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay \nSources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:48:37.925998+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Aarly-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:48:25.355143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYSM1: Changed publications: 4288411, 28115216, 26220525, 32640305",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T13:47:43.432751+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list; to: Aarly-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T11:40:08.880553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4242",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29681094, 25512002; Phenotypes: Mitochondrial myopathy with lactic acidosis (MIM#251950), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T10:44:45.388709+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2967",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T10:40:44.317299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4242",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2020-09-07T09:00:22.585658+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay \nSources: Expert list; to: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.\r\nSources: Expert list",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T09:00:07.909516+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2020-09-07T08:54:39.489528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTG4 were changed from Zygotic cleavage failure (ZCF) to Zygotic cleavage failure (ZCF); Oocyte maturation defect, MIM#619009",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-09-07T08:54:14.954798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BTG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte maturation defect, MIM#619009; Mode of inheritance: None",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:02:12.839449+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCB as ready",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:02:12.831026+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pccb has been classified as Green List (High Evidence).",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:02:09.331293+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCCB as Green List (high evidence)",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:02:09.320052+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pccb has been classified as Green List (High Evidence).",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:02:00.490786+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCB was added\ngene: PCCB was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCB were set to 30879957\nPhenotypes for gene: PCCB were set to Propionicacidemia, MIM#\t606054\nReview for gene: PCCB was set to GREEN\nAdded comment: The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults is pertinent to this panel as it has a milder phenotype. It is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. \nSources: Expert list",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:01:10.065290+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCA as ready",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:01:10.032271+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcca has been classified as Green List (High Evidence).",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:01:03.199207+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCCA as Green List (high evidence)",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:01:03.187993+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcca has been classified as Green List (High Evidence).",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2020-09-06T19:00:53.891337+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCA was added\ngene: PCCA was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCA were set to 30879957\nPhenotypes for gene: PCCA were set to Propionicacidemia, MIM#\t606054\nReview for gene: PCCA was set to GREEN\nAdded comment: The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults is pertinent to this panel as it has a milder phenotype. It is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. \nSources: Expert list",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:34:10.482924+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1C as ready",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:34:10.470906+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Green List (High Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:34:04.181005+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:33:52.258976+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:33:17.119921+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:33:03.807342+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:31:22.119404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1C as ready",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:31:22.109873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Green List (High Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:31:16.193313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1C were changed from to Spastic ataxia 2, autosomal recessive, MIM# 611302",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:30:55.924990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:30:36.538530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:30:18.757516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:57.789118+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1C as ready",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:57.778614+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:45.163734+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF1C as Amber List (moderate evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:45.149198+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:35.505642+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1C were set to 31413903\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, MIM#\t611302\nReview for gene: KIF1C was set to AMBER\nAdded comment: Neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. At least one report of a more complex movement disorder including dystonia. \nSources: Expert list",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:47:20.487754+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA2 as ready",
"entity_name": "KCNA2",
"entity_type": "gene"
}
]
}