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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1466",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1464",
"results": [
{
"created": "2020-12-22T16:28:21.381111+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:28:13.264724+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO9A was added\ngene: MYO9A was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM#\t618198\nReview for gene: MYO9A was set to GREEN\nAdded comment: Ptosis and ophthalmoplegia are common features of CMS. \nSources: Expert list",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:24:40.848877+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:24:40.841354+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:24:37.217464+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRND as Green List (high evidence)",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:24:37.209214+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:24:26.642210+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRND was added\ngene: CHRND was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#\t616322\nReview for gene: CHRND was set to GREEN\nAdded comment: Ptosis and ophthalmoplegia are features of congenital myasthenic syndromes. \nSources: Expert list",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:20:54.888891+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD3 as ready",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:20:54.873327+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:20:49.158807+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMOD3 as Green List (high evidence)",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:20:49.151442+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-12-22T16:20:40.309042+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMOD3 were set to 25250574\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy 10, MIM#\t616165\nReview for gene: LMOD3 was set to GREEN\nAdded comment: In a series of 21 affected individuals, ophthalmoplegia was present in a third. \nSources: Expert list",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:15:47.435184+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features. \nSources: Expert list; to: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features. Nine unrelated families.\r\nSources: Expert list",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:15:30.521655+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:15:30.510322+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:15:16.224960+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:15:16.215047+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:15:07.069632+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM#\t619026\nReview for gene: HPDL was set to GREEN\nAdded comment: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features. \nSources: Expert list",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:04:32.605625+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF216 as ready",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:04:32.593409+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:04:28.665571+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF216 as Green List (high evidence)",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:04:28.654095+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-12-22T12:04:21.126502+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF216 was added\ngene: RNF216 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 25841028; 23656588\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM#\t212840\nReview for gene: RNF216 was set to GREEN\nAdded comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females. \nSources: Expert list",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:52:10.552569+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:52:10.541950+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:57.495555+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SURF1 as Green List (high evidence)",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:57.475837+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:43.032420+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC18A3 as ready",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:43.020991+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:38.517554+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC18A3 as Green List (high evidence)",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:38.507882+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc18a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:22.934482+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QBP as ready",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:22.923480+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:18.827892+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1QBP as Green List (high evidence)",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:18.817111+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:00.880281+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BIN1 as ready",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:51:00.868091+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bin1 has been classified as Green List (High Evidence).",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:50:52.391354+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BIN1 as Green List (high evidence)",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:50:52.380263+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bin1 has been classified as Green List (High Evidence).",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:43:48.683090+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-22T11:41:36.039731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: XYLT1.\nTag STR tag was added to gene: XYLT1.",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:41:19.993038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:40:19.944569+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2; OMIM# 615777 to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:39:43.169644+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: XYLT1.\nTag STR tag was added to gene: XYLT1.",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:39:31.194337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:37:59.736280+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XYLT1 as ready",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:37:59.726314+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xylt1 has been classified as Green List (High Evidence).",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:37:56.981105+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:37:30.039943+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XYLT1 were set to ",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:37:02.556889+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:36:36.022748+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: XYLT1.\nTag STR tag was added to gene: XYLT1.",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:36:21.337541+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:27:59.591769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TUSC3.",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:27:38.389814+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUSC3 as ready",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:27:38.381109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tusc3 has been classified as Green List (High Evidence).",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:27:33.427635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:26:59.950934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUSC3 were set to ",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:26:28.060548+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:25:54.855696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:25:13.776670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TUSC3.",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:24:47.980427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUSC3 as ready",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:24:47.969784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tusc3 has been classified as Green List (High Evidence).",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:24:39.556037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:24:19.504967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUSC3 were set to ",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:24:00.240024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:23:39.413430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:22:38.251493+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUSC3 as ready",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:22:38.242129+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tusc3 has been classified as Green List (High Evidence).",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:22:35.412082+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:22:12.836967+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUSC3 were set to ",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:21:10.315896+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:20:41.053894+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TUSC3.",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:20:32.763380+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:15:56.103883+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TMEM5: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Brain imaging shows cobblestone lissencephaly. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB).",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:15:28.110689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:15:12.087722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TMEM5: New gene name is RXYLT1.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:14:45.080188+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:14:37.028557+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TMEM5: New gene name is RXYLT1.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:14:08.359382+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:13:59.383887+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TMEM5: New gene name is RXYLT1.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:13:27.697478+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:13:09.676433+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:13:09.662879+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem5 has been classified as Green List (High Evidence).",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:13:01.715854+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:12:27.928558+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM5 were set to ",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:11:58.525570+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:11:29.568305+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211, 30017359, 27733679, 27212206; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:07:10.765396+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM165 as ready",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:07:10.756943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem165 has been classified as Green List (High Evidence).",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:07:06.891055+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:06:36.060804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM165 were set to ",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:06:03.844313+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:04:58.434609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:03:57.548479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM165 as ready",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:03:57.538781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem165 has been classified as Green List (High Evidence).",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:02:50.306438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:02:30.926601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM165 were set to ",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:02:09.513164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:01:51.340906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:00:52.263472+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM165 as ready",
"entity_name": "TMEM165",
"entity_type": "gene"
}
]
}