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{
"count": 220293,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1429",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1427",
"results": [
{
"created": "2021-02-01T16:15:38.374375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6171",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: C14orf39 was added\ngene: C14orf39 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf39 were set to PMID: 33508233; 27796301\nPhenotypes for gene: C14orf39 were set to Azoospermia; Premature ovarian insufficiency\nReview for gene: C14orf39 was set to GREEN\nAdded comment: PMID: 33508233\r\n- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency)\r\n- 2 unrelated Chinese males with azoospermia\r\nAll patients had either homozygous PTCs or splice\r\n\r\nPMID: 27796301\r\nMouse K/O had azoospermia and ovarian failure \nSources: Literature",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:13:54.248961+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP7A as ready",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:13:54.237892+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:13:51.267545+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP7A as Green List (high evidence)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:13:51.257054+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:13:43.137416+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP7A were set to 7842019; 8981948\nPhenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism\nReview for gene: ATP7A was set to GREEN\ngene: ATP7A was marked as current diagnostic\nAdded comment: Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism. \nSources: NHS GMS",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:12:23.162710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:02:45.286926+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SATB1 was added\ngene: SATB1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SATB1 were set to PMID: 33513338; 33057194\nPhenotypes for gene: SATB1 were set to Neurodevelopmental disorders\nMode of pathogenicity for gene: SATB1 was set to Other\nReview for gene: SATB1 was set to GREEN\nAdded comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.\r\nMissense variants - more severe, profound ID\r\nNMD PTCs - milder disease\r\n\r\nFunctional studies show missense variants have a STRONGER binding to downstream targets \nSources: Literature",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:02:42.627018+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1014",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SATB1 was added\ngene: SATB1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SATB1 were set to PMID: 33513338; 33057194\nPhenotypes for gene: SATB1 were set to Neurodevelopmental disorders\nMode of pathogenicity for gene: SATB1 was set to Other\nReview for gene: SATB1 was set to GREEN\nAdded comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.\r\nMissense variants - more severe, profound ID\r\nNMD PTCs - milder disease\r\n\r\nFunctional studies show missense variants have a STRONGER binding to downstream targets \nSources: Literature",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:02:40.281332+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.232",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SATB1 was added\ngene: SATB1 was added to Regression. Sources: Literature\nMode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SATB1 were set to PMID: 33513338; 33057194\nPhenotypes for gene: SATB1 were set to Neurodevelopmental disorders\nMode of pathogenicity for gene: SATB1 was set to Other\nReview for gene: SATB1 was set to GREEN\nAdded comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.\r\nMissense variants - more severe, profound ID\r\nNMD PTCs - milder disease\r\n\r\nFunctional studies show missense variants have a STRONGER binding to downstream targets \nSources: Literature",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:00:41.613175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3424",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: KCNN2 as ready",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:00:41.604950+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3424",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T16:00:32.014319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3424",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:59:55.555527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3423",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: KCNN2 as Green List (high evidence)",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:59:55.545588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3423",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:59:11.832165+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.268",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNN2 was added\ngene: KCNN2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN2 were set to 33242881\nPhenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders\nPenetrance for gene: KCNN2 were set to unknown\nReview for gene: KCNN2 was set to GREEN\nAdded comment: - 11 probands all de novo except for 1 mother-daughter pair.\r\n- a mix of null and missense variants\r\n- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies\r\n\r\nadditional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant\r\n\r\npatch clamp functional studies were also done \nSources: Literature",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:59:02.994203+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SATB1 were set to 33057194",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:58:26.186381+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB1 as Green List (high evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:58:26.176797+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:58:08.321238+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATIC as ready",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:58:08.311320+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atic has been classified as Green List (High Evidence).",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:58:05.619231+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATIC as Green List (high evidence)",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:58:05.608635+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atic has been classified as Green List (High Evidence).",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:57:55.725585+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATIC was added\ngene: ATIC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATIC were set to 15114530; 32557644\nPhenotypes for gene: ATIC were set to AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism\nReview for gene: ATIC was set to GREEN\nAdded comment: 4 cases from 3 independent families. Deficiency causes an inborn error of purine metabolism. \nSources: NHS GMS",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:57:24.858144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:57:15.178849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6170",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: KCNN2 as ready",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:57:15.171217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6170",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:57:05.657465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6170",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:56:54.362081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB1 as Green List (high evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:56:54.351008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:56:21.211033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6168",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: KCNN2 as Green List (high evidence)",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:56:21.200708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6168",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:55:44.427366+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1014",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: KCNN2 as ready",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:55:44.416355+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1014",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:55:39.397479+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.260",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: NSUN2 as ready",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:55:39.385420+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.260",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: nsun2 has been classified as Red List (Low Evidence).",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:55:24.295096+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.260",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "edited their review of gene: NSUN2: Changed publications: 33084202",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:55:23.354807+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1014",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from 33242881 to Neurological Disorder; Developmental Delay; Seizures",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:54:59.484625+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.260",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: NSUN2 was added\ngene: NSUN2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features\nPenetrance for gene: NSUN2 were set to Complete\nReview for gene: NSUN2 was set to AMBER\nAdded comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts \nSources: Literature",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:54:11.557529+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3420",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: METAP1 was added\ngene: METAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METAP1 were set to 32764695\nPhenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay\nReview for gene: METAP1 was set to RED\ngene: METAP1 was marked as current diagnostic\nAdded comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family. \nSources: Literature",
"entity_name": "METAP1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:54:03.071362+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1013",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: KCNN2 as Green List (high evidence)",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:54:03.062261+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1013",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:53:15.713841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6167",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: ENO1 was added\ngene: ENO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENO1 were set to 32488097\nPhenotypes for gene: ENO1 were set to Polymicrogyria\nReview for gene: ENO1 was set to RED\nAdded comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2. \nSources: Literature",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:53:10.919353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: METAP1 as ready",
"entity_name": "METAP1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:53:10.911515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: metap1 has been classified as Red List (Low Evidence).",
"entity_name": "METAP1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:52:57.551445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: METAP1 as Red List (low evidence)",
"entity_name": "METAP1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:52:57.539885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: metap1 has been classified as Red List (Low Evidence).",
"entity_name": "METAP1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:52:56.912737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3420",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338, 33057194; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:52:56.804707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6166",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:52:26.174940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1012",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNN2 was added\ngene: KCNN2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN2 were set to 33242881\nPhenotypes for gene: KCNN2 were set to 33242881\nPenetrance for gene: KCNN2 were set to unknown\nReview for gene: KCNN2 was set to GREEN\nAdded comment: - 11 probands all de novo except for 1 mother-daughter pair.\r\n- a mix of null and missense variants\r\n- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies\r\n\r\nadditional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant\r\n\r\npatch clamp functional studies were also done \nSources: Literature",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:51:01.083319+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENO1 as ready",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:51:01.070187+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eno1 has been classified as Red List (Low Evidence).",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:50:49.523990+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENO1 as Red List (low evidence)",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:50:49.510828+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eno1 has been classified as Red List (Low Evidence).",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:50:23.313030+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3420",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNN2 was added\ngene: KCNN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN2 were set to 33242881\nPhenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders\nPenetrance for gene: KCNN2 were set to unknown\nReview for gene: KCNN2 was set to GREEN\nAdded comment: - 11 probands all de novo except for 1 mother-daughter pair.\r\n- a mix of null and missense variants\r\n- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies\r\n\r\nadditional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant\r\n\r\npatch clamp functional studies were also done \nSources: Literature",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:49:57.256270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6166",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: METAP1 was added\ngene: METAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METAP1 were set to PMID: 32764695\nPhenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay\nReview for gene: METAP1 was set to RED\ngene: METAP1 was marked as current diagnostic\nAdded comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family. \nSources: Literature",
"entity_name": "METAP1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:48:03.462274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYADML2 as ready",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:48:03.452086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myadml2 has been classified as Red List (Low Evidence).",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:47:51.826511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYADML2 as Red List (low evidence)",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:47:51.815278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myadml2 has been classified as Red List (Low Evidence).",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:47:30.911254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MYADML2.",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:45:47.902923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC186 as ready",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:45:47.894549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc186 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:45:39.769213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC186 was added\ngene: CCDC186 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC186 were set to 33259146\nPhenotypes for gene: CCDC186 were set to Epileptic encephalopathy\nReview for gene: CCDC186 was set to RED\nAdded comment: One individual reported with bi-allelic truncating variant and EE. \nSources: Literature",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:45:06.660622+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.44",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: 33103328; Phenotypes: ID, cardiac; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:44:32.173936+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC186 was added\ngene: CCDC186 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC186 were set to 33259146\nPhenotypes for gene: CCDC186 were set to Epileptic encephalopathy\nReview for gene: CCDC186 was set to RED\nAdded comment: One individual reported with bi-allelic truncating variant and EE. \nSources: Literature",
"entity_name": "CCDC186",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:41:00.363433+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS1 as ready",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:41:00.344519+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:40:24.048118+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDSS1 as Amber List (moderate evidence)",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:40:24.040528+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:39:50.772035+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS1 was added\ngene: PDSS1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDSS1 were set to 33285023\nPhenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651\nReview for gene: PDSS1 was set to AMBER\nAdded comment: Two families reported where optic atrophy and deafness are part of the phenotype. \nSources: Literature",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:39:22.711399+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS1 as ready",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:39:22.700793+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:38:58.564940+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDSS1 as Amber List (moderate evidence)",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:38:58.557460+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:38:27.689390+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS1 was added\ngene: PDSS1 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDSS1 were set to 33285023\nPhenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM#\t614651\nReview for gene: PDSS1 was set to AMBER\nAdded comment: Two families reported where optic atrophy and deafness are part of the phenotype. \nSources: Literature",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:35:46.924133+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.98",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: NR4A2 as ready",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:35:46.916376+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.98",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Green List (High Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:35:36.795775+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.98",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: NR4A2 as Green List (high evidence)",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:35:36.788324+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.98",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Green List (High Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:34:01.563368+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.97",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: NR4A2 was added\ngene: NR4A2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NR4A2 were set to 31922365\nPhenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson\nReview for gene: NR4A2 was set to GREEN\nAdded comment: Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.\r\n\r\nhttps://doi.org/10.1212/NXG.0000000000000543\r\nhttps://doi.org/10.1002/mds.27982 \nSources: Literature",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:32:15.883591+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.156",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: ENO1 was added\ngene: ENO1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENO1 were set to 32488097\nPhenotypes for gene: ENO1 were set to Polymicrogyria\nReview for gene: ENO1 was set to RED\nAdded comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2. \nSources: Literature",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:30:32.316250+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.248",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: UBE3B as Green List (high evidence)",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:30:32.312993+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.248",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Reviewed",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:30:32.295189+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.248",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Green List (High Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:30:12.124470+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.248",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: UBE3B as Green List (high evidence)",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:30:12.107971+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.248",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Green List (High Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:29:39.511055+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.247",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: UBE3B as Green List (high evidence)",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:29:39.502431+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.247",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Green List (High Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:29:36.624648+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.246",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: UBE3B as ready",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:29:36.614991+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.246",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Red List (Low Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:29:13.731917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6164",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNN2 was added\ngene: KCNN2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN2 were set to 33242881\nPhenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders\nPenetrance for gene: KCNN2 were set to unknown\nReview for gene: KCNN2 was set to GREEN\nAdded comment: - 11 probands all de novo except for 1 mother-daughter pair.\r\n- a mix of null and missense variants\r\n- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies\r\n\r\nadditional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant\r\n\r\npatch clamp functional studies were also done \nSources: Literature",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:29:00.181931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6164",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MYADML2 was added\ngene: MYADML2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYADML2 were set to 32778762\nPhenotypes for gene: MYADML2 were set to Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles\nReview for gene: MYADML2 was set to RED\ngene: MYADML2 was marked as current diagnostic\nAdded comment: 5 sibs from a consanguineous family identified to have biallelic deletion encompassing part of the PYCR1 gene and the coding region of the MYADML2 gene. \r\n\r\nAccording to the authors: \"All five affected sibs had the most common features of ARCL (autosomal recessive cutis laxa) but not many of the less common ones. We attributed the anomalies not typical for ARCL to MYADML2 deficit, because no other genetic defect possibly a candidate to underlie the skeletal phenotype was found.\"\r\n\r\nPhenotype may still be explained by the PYCR1 deletion alone. \nSources: Literature",
"entity_name": "MYADML2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:28:15.607915+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.246",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: UBE3B was added\ngene: UBE3B was added to Callosome. Sources: Literature\nMode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE3B were set to 32949109\nPhenotypes for gene: UBE3B were set to Blepharophimosis; intellectual disability\nPenetrance for gene: UBE3B were set to Complete\nAdded comment: 7 patients with UBE3B syndrome and callosal anomalies - hypoplasia and agenesis \nSources: Literature",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:28:14.939854+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.168",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: NR4A2 as ready",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:28:14.931792+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.168",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Green List (High Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:28:09.657518+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.168",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: NR4A2 as Green List (high evidence)",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:28:09.647258+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.168",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Green List (High Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:27:50.580804+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.167",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: NR4A2 was added\ngene: NR4A2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NR4A2 were set to 31922365\nPhenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson\nReview for gene: NR4A2 was set to GREEN\nAdded comment: Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.\r\n\r\nhttps://doi.org/10.1212/NXG.0000000000000543\r\nhttps://doi.org/10.1002/mds.27982 \nSources: Literature",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2021-02-01T12:41:44.683760+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FST was added\ngene: FST was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FST were set to PubMed: 31215115\nPhenotypes for gene: FST were set to orofacial clefting\nReview for gene: FST was set to RED\nAdded comment: In a cohort of 72 families with orofacial clefting, Cox et al. (2019) performed exome sequencing and identified a father and 2 daughters (family 22) with cleft lip and palate who were heterozygous for missense variant (C56Y) in FST. A highly conserved residue within the 63-residue N-terminal domain. The variant was not found in the unaffected paternal grandmother or in the gnomAD database. Classed as a VUS. Functional analysis in transfected HEK293T cells, using a stable cell line sensitive to stimulation by the FST downstream target GDF11, demonstrated that wildtype FST efficiently and completely antagonized GDF11-stimulated reporter activity. In contrast, the C56Y mutant did not significantly inhibit the stimulation of reporter activity, regardless of the amount of mutant vector transfected. \nSources: Expert list",
"entity_name": "FST",
"entity_type": "gene"
}
]
}