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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1731",
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"results": [
{
"created": "2020-07-14T18:46:01.124690+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF21B as Green List (high evidence)",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:46:01.118124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:45:17.606806+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX1 as ready",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:45:17.595579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:45:12.811696+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX1 as Amber List (moderate evidence)",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:45:12.804922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:44:59.667914+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX1 as Amber List (moderate evidence)",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:44:59.620444+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:48.853346+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM106B as ready",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:48.846518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem106b has been classified as Green List (High Evidence).",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:42.803493+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM106B as Green List (high evidence)",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:42.797181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem106b has been classified as Green List (High Evidence).",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:08.566735+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM106B as ready",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:08.557652+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem106b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:02.624755+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM106B as Amber List (moderate evidence)",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:43:02.614800+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem106b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:41:51.104695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D2B as ready",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:41:51.094365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Green List (High Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:41:43.385345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D2B as Green List (high evidence)",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:41:43.378844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Green List (High Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:41:28.945963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D2B was added\ngene: TBC1D2B was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D2B were set to 32623794\nPhenotypes for gene: TBC1D2B were set to Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality\nReview for gene: TBC1D2B was set to GREEN\nAdded comment: Harms et al (2020 - PMID: 32623794) report on 3 unrelated individuals with biallelic pLoF TBC1D2B variants. Features included cognitive impairment (mild ID in one case, regression at the age of 12y in another, hypotonia and delayed milestones in a third aged 8m), seizures (3/3 - variable age of onset) and/or gingival overgrowth (2/3 - prior to initiation of AEDs). Other findings included behavioral abnormalities, mandibular anomalies, abnormal brain imaging and ophthalmologic or (rarely) audiometric evaluations. All were born to non-consanguineous couples and additional investigations were performed in some. Variants were identified by WES or trio WGS, with Sanger confirmation/compatible segregation analyses. In line with the pLoF variants, mRNA studies in fibroblasts from 2 unrelated affected individuals demonstrated significantly reduced (~80-90%) TBC1C2D mRNA levels compared to controls, restored following cycloheximide treatment. Protein was absent in patient fibroblasts. TBC-domain containing GTPase activating proteins are known as key regulators of RAB GTPase activity. TBC1D2B was shown to colocalize with RAB5-positive endocytic vesicles. CRISPR/Cas9-mediated ko of TBC1D2B in HeLa cells suggested a role in EGF receptor endocytosis and decreased cell viability of TBC1D2B-deficient HeLa cells upon serum deprivation. Genes encoding other TBC domain-containg GTPase-activating proteins, e.g. TBC1D7 and TBC1D20, TBC1D24 are associated with recessive neurodevelopmental disorders (with ID and/or seizures) and the pathophysiological defect in TBC1D2B-related disorder (deficit in vesicle trafficking and/or cell survival) is proposed to be similar to that of TBC1D24. \nSources: Expert Review",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:40:23.760774+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D2B as Green List (high evidence)",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:40:23.754263+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Green List (High Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:39:49.020432+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D2B as ready",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:39:49.012479+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:39:33.045225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D2B as Amber List (moderate evidence)",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:39:33.035899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:38:34.256139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC2 as ready",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:38:34.249386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:38:25.799334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOC2 as Amber List (moderate evidence)",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:38:25.767789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:37:35.272673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOC2 was added\ngene: EXOC2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: EXOC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC2 were set to 32639540\nPhenotypes for gene: EXOC2 were set to Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology\nReview for gene: EXOC2 was set to AMBER\nAdded comment: Van Bergen et al (2020 - PMID: 32639540) report on 3 individuals from 2 families, harboring biallelic EXOC2 mutations. Clinical presentation included DD, ID (severe in 2 subjects from fam1, borderline intellectual functioning in fam2), dysmorphic features and brain abnormalities. Cerebellar anomalies were common to all with a molar tooth sign observed in one (1/3). Other findings limited to subjects from one family included acquired microcephaly, congenital contractures, spastic quadriplegia (each observed 2/3). Previous investigations were in all cases non-diagnostic. WES identified biallelic EXOC2 mutations in all affected individuals. EXOC2 encodes an exocyst subunit. The latter is an octameric complex, component of the membrane transport machinery, required for tethering and fusion of vesicles at the plasma membrane. As discussed ,vesicle transport is important for the development of brain and the function of neurons and glia. Exocyst function is also important for delivery of Arl13b to the primary cilium (biallelic ARL13B mutations cause Joubert syndrome 8) and ciliogenesis. Affected subjects from a broader consanguineous family (fam1) were homozygous for a truncating variant. Fibroblast studies revealed mRNA levels compatible with NMD (further restored in presence of CHX) as well as reduced protein levels. The female belonging to the second non-consanguineous family was found to harbor 2 missense variants in trans configuration. An exocytosis defect was demonstrated in fibroblasts from individuals belonging to both families. Ciliogenesis appeared to be normal, however Arl13b localization/recruitment to the cilia was reduced compared with control cells with the defect rescued upon exogenous expression of wt EXOC2. Mutations in other genes encoding components of the exocyst complex have been previously reported in individuals with relevant phenotypes (e.g. EXOC8 in a boy with features of Joubert s. or EXOC4 in nephrotic syndrome). The authors discuss on the essential role of EXOC2 based on model organism studies (e.g. impaired neuronal membrane traffic, failure of neuronal polarization and neuromuscular junction expansion seen in Drosophila Sec5 (EXOC2) null mutants). \nSources: Expert Review",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:36:24.136803+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC2 as ready",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:36:24.126938+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:36:15.454443+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOC2 as Amber List (moderate evidence)",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:36:15.448041+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:35:25.431381+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:35:25.423989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep120 has been classified as Green List (High Evidence).",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:35:21.584959+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP120 as Green List (high evidence)",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:35:21.575505+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep120 has been classified as Green List (High Evidence).",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:34:24.661565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC174 as ready",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:34:24.653972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc174 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:34:05.581302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC174 as Amber List (moderate evidence)",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:34:05.574065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc174 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:33:51.383190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC174 was added\ngene: CCDC174 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC174 were set to 26358778\nPhenotypes for gene: CCDC174 were set to Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816\nReview for gene: CCDC174 was set to AMBER\nAdded comment: Biallelic pathogenic CCDC174 variants cause Hypotonia, infantile, with psychomotor retardation - IHPMR (MIM 616816). Volodarsky et al [2015 - PMID: 26358778] describe 6 children from 2 unrelated families with - among others - severe hypotonia, psychomotor delay and abducens nerve palsy. All affected subjects were homozygous for a stoploss variant. Evidence from functional studies/animal model is provided supporting the role of the gene in this phenotype. Overall this gene can be considered for inclusion in the ID panel with amber rating (2 families, single founder variant, consistent phenotype, supportive studies) pending further reports. \nSources: Expert Review",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:32:35.381549+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC174 as ready",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:32:35.372502+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc174 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:32:26.789393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC174 as Amber List (moderate evidence)",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:32:26.782577+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc174 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC174",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:31:22.449270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX2 as Green List (high evidence)",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:31:22.440030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Green List (High Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:31:07.235268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACOX2: Added comment: Third family reported.; Changed rating: GREEN; Changed publications: 27647924, 27884763, 29287774",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:30:42.418486+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACOX2 were set to 27647924; 27884763",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:30:21.504555+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX2 as Green List (high evidence)",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:30:21.497879+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Green List (High Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:29:59.214456+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACOX2: Added comment: Third family reported.; Changed rating: GREEN; Changed publications: 29287774; Changed phenotypes: Bile acid synthesis defect, congenital, 6, 617308; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:27:20.463080+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX2 as ready",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:27:20.456184+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Red List (Low Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:27:16.442735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX2 as Red List (low evidence)",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:27:16.433133+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Red List (Low Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:26:14.229246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA2 as ready",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:26:14.222879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca2 has been classified as Green List (High Evidence).",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:26:06.906196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCA2 as Green List (high evidence)",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:26:06.896750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca2 has been classified as Green List (High Evidence).",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:25:50.562728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA2 was added\ngene: ABCA2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCA2 were set to 30237576; 29302074; 31047799\nPhenotypes for gene: ABCA2 were set to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808\nReview for gene: ABCA2 was set to GREEN\nAdded comment: Biallelic pathogenic ABCA2 variants cause Intellectual developmental disorder with poor growth and with or without seizures or ataxia (MIM 618808). There are 3 relevant publications (01-07-2020) : - Maddirevula et al [2019 - PMID: 30237576] described briefly 2 unrelated subjects (16-2987, 16DG0071) both DD and seizures among other manifestations. - Hu et al [2019 - PMID: 29302074] reported 3 sibs (M8600615 - III:1-3) born to consanguineous parents (M8600615 - III:1-3) with DD/ID (formal confirmation of moderate ID, in those (2) evaluated). One also presented with seizures. - Aslam and Naz [2019 - PMID: 31047799] provided clinical details on 2 siblings born to consanguineous parents. ID was reported for the older sib but was absent in the younger one. Seizures were not part of the phenotype. All subjects harbored biallelic pLoF variants. N.B. : Steinberg et al [2015 - PMID: 25773295], within a cohort of patients with ALS, identified one with biallelic ABCA2 variants. As however Aslam and Naz comment, this person harbored a single pathogenic variant, with a second one rather unlikely to be pathogenic due to high allele frequency. Overall this gene can be considered for inclusion with green rating in both ID and epilepsy panels (each in >=3 unrelated individuals). \nSources: Expert Review",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:24:39.622204+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA2 as ready",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:24:39.612411+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca2 has been classified as Green List (High Evidence).",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:24:35.015433+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCA2 as Green List (high evidence)",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:24:35.001633+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca2 has been classified as Green List (High Evidence).",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:24:01.709731+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA2 as ready",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:24:01.683668+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca2 has been classified as Green List (High Evidence).",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:23:40.760936+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCA2 as Green List (high evidence)",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:23:40.754391+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca2 has been classified as Green List (High Evidence).",
"entity_name": "ABCA2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:22:28.039307+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC2 as ready",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:22:28.031201+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Green List (High Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:22:25.909724+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:22:03.946919+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC2 were set to ",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:21:37.118390+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:21:12.121248+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:20:37.096295+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC2 as ready",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:20:37.086306+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Green List (High Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:20:34.540653+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:20:14.134684+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC2 were set to ",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:19:51.901916+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:19:21.140589+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:18:30.588623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC2 as ready",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:18:30.574992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Green List (High Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:18:24.204229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:18:03.964558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC2 were set to ",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:17:49.949243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:17:32.508704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:15:56.406259+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC2 as ready",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:15:56.399603+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Green List (High Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:12:34.625715+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HERC2 as Green List (high evidence)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:12:34.616106+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Green List (High Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:11:41.014935+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC2 were set to 23243086; 23065719",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:11:12.890332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HERC2 as Green List (high evidence)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:11:12.883227+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Green List (High Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-07-14T10:06:16.376046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALOX12 as ready",
"entity_name": "ALOX12",
"entity_type": "gene"
},
{
"created": "2020-07-14T10:06:16.369036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alox12 has been classified as Red List (Low Evidence).",
"entity_name": "ALOX12",
"entity_type": "gene"
}
]
}