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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1614",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1612",
"results": [
{
"created": "2020-09-03T07:17:16.728331+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single LP variant in ClinVar but reported phenotype is schizophrenia. Original study dates to 2013.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T07:17:16.701976+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T07:15:19.349202+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPP6 as ready",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T07:15:19.337516+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T07:13:59.222180+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPP6 as Amber List (moderate evidence)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T07:13:59.213742+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T07:12:47.681699+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-03T02:10:00.153977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Gene is associated with Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis in OMIM, but not in G2P.\r\n\r\nPMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect.\r\n\r\nThe mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11.\r\n\r\n\r\nPMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family.\r\n\r\nComparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \nSources: Literature; to: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Amber as additional cases required to delineate the genotype-phenotype relationship. \r\n\r\nPMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect.\r\n\r\nThe mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11.\r\n\r\n\r\nPMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family.\r\n\r\nComparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \r\n\r\nSources: Literature",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2020-09-03T02:07:55.390672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TRAPPC2L was added\ngene: TRAPPC2L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC2L were set to 30120216; 32843486\nPhenotypes for gene: TRAPPC2L were set to Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331\nReview for gene: TRAPPC2L was set to AMBER\nAdded comment: Gene is associated with Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis in OMIM, but not in G2P.\r\n\r\nPMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect.\r\n\r\nThe mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11.\r\n\r\n\r\nPMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family.\r\n\r\nComparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \nSources: Literature",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2020-09-03T00:15:04.507686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-09-02T22:21:55.396509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus\nAdded comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene.\r\n\r\nFunctional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. \nSources: Literature",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:57:16.069252+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2934",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: DPP6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:57:09.849767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23832105; Phenotypes: Mental retardation, autosomal dominant 33 (MIM#616311); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:56:08.856621+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2934",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23832105; Phenotypes: Mental retardation, autosomal dominant 33 (MIM#616311); Mode of inheritance: None",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:52:11.716747+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.369",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DPP6 was added\ngene: DPP6 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DPP6 were set to 23832105\nPhenotypes for gene: DPP6 were set to Mental retardation, autosomal dominant 33\t(MIM#616311)\nPenetrance for gene: DPP6 were set to unknown\nReview for gene: DPP6 was set to AMBER\nAdded comment: PMID: 23832105\r\n- 1x proband (OFC < -3 SD) with a missense which segregated in 3 other family members\r\n- 2x probands with 336kb deletion. Both OFCs < -3 SD\r\n- mouse KO model with significantly smaller brain weight\r\n\r\n*unable to find new reports since \nSources: Literature",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:44:37.060586+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTU2 as ready",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:44:37.048305+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctu2 has been classified as Green List (High Evidence).",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:44:30.056715+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142)",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:44:08.982137+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTU2 were set to ",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:43:45.551333+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:41:56.351441+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCGF2 as ready",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:41:56.337664+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcgf2 has been classified as Green List (High Evidence).",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:41:52.623707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCGF2 were changed from to Turnpenny-Fry syndrome, MIM# 618371",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:41:26.679100+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCGF2 were set to ",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:40:58.935775+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.366",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633546; Phenotypes: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:40:51.867026+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCGF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:40:19.203238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30343942; Phenotypes: Turnpenny-Fry syndrome, MIM# 618371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:39:31.655166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCGF2 as ready",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:39:31.645199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcgf2 has been classified as Green List (High Evidence).",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:39:19.650264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCGF2 were changed from to Turnpenny-Fry syndrome, MIM# 618371",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:39:04.554359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCGF2 were set to ",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:38:48.280594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCGF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:38:27.331899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30343942; Phenotypes: Turnpenny-Fry syndrome, MIM# 618371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:33:13.378430+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCGF2 as ready",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:33:13.367620+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcgf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:33:11.044873+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCGF2 were changed from to Turnpenny-Fry syndrome, MIM# 618371",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:32:44.064222+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCGF2 were set to ",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:32:17.718472+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCGF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:31:56.727302+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCGF2 as Amber List (moderate evidence)",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:31:56.717426+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcgf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:31:29.956004+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. Head size is variable, with some patients showing relative macrocephaly and others showing microcephaly. Over 10 affected individuals reported to date, all variants affect residue p.Pro65; to: Key features include developmental delay, impaired intellectual development, impaired growth, and recognizable facial features (frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears). Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. Head size is variable, with some patients showing relative macrocephaly and others showing microcephaly. Over 10 affected individuals reported to date, all variants affect residue p.Pro65",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:30:54.120085+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCGF2: Changed rating: AMBER",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:30:45.801273+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30343942; Phenotypes: Turnpenny-Fry syndrome, MIM# 618371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:26:54.068289+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNNB1 as ready",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:26:54.054811+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:26:16.555407+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTNNB1 as Green List (high evidence)",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:26:16.546619+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:18:42.315212+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.361",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CTNNB1 was added\ngene: CTNNB1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNNB1 were set to 25326669; 32039639\nPhenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects\t(MIM#615075); Exudative vitreoretinopathy 7\t(MIM#617572)\nPenetrance for gene: CTNNB1 were set to unknown\nReview for gene: CTNNB1 was set to GREEN\nAdded comment: PMID: 32039639;\r\n-1x proband with familial exudative vitreoretinopathy (FEVR) and microcephaly. Head circumference <1st centile\r\n\r\nPMID: 25326669\r\n- 15 families with 16 affecteds. de novo PTVs\r\n- included 5 patients from published literature\r\n- 10 out of 20 presented with microcephaly, head circumference < -3 SD \nSources: Literature",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:07:41.351786+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH12 were changed from DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:07:20.923408+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH12 were set to 27164683; 22822038",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:06:47.715965+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:59:20.578359+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:59:20.567430+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:59:17.207659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:58:56.428137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIT1 were set to ",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:58:18.092440+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:57:43.866519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:57:35.594769+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:56:55.190810+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIT1 were set to ",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:56:26.195962+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:55:57.389904+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:55:09.594738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:55:09.583539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:55:02.318921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:54:43.963889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIT1 were set to ",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:54:25.848823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:54:08.724794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:52:35.351302+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:52:35.341870+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:52:26.418872+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35 MIM#617873",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:51:56.392707+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIT1 were set to ",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:51:13.060044+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:50:48.128881+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIT1 as Amber List (moderate evidence)",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:50:48.118358+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:49:32.734141+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.355",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35 MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:10:47.260485+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTCF as ready",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:10:47.249459+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctcf has been classified as Green List (High Evidence).",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:10:44.927816+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:10:23.094819+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTCF were set to ",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:09:54.987788+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:07:37.019359+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag umccr was removed from gene: TBCD.",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:07:15.338839+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCD as ready",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:07:15.327983+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Green List (High Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:07:12.959091+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:06:44.994159+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCD were set to ",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:06:14.228607+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:05:50.136543+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. \nSources: Expert Review; to: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy including progressive microcephaly.\r\nSources: Expert Review",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:04:07.441417+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN15 as ready",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:04:07.432349+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Green List (High Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:03:59.096514+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSEN15 as Green List (high evidence)",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:03:59.086262+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Green List (High Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:02:35.706446+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-02T20:01:04.316685+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN2 as ready",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:01:04.290240+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:01:01.145965+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B (MIM#612389)",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T20:00:33.695192+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN2 were set to ",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:59:40.769377+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:59:34.548507+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.344",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TSEN15 was added\ngene: TSEN15 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN15 were set to 27392077\nPhenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F MIM#617026\nReview for gene: TSEN15 was set to GREEN\ngene: TSEN15 was marked as current diagnostic\nAdded comment: PMID 27392077 Reports four individuals from three families with PCH type 2 and different homozygous missense variants, all had progressive microcephaly (between -3SD and -9.7SD). Functional studies indicated that all variants resulted in almost complete lack of in vitro tRNA cleavage activity. \nSources: Literature",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:59:05.125621+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSEN2 as Amber List (moderate evidence)",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:59:05.110966+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
}
]
}