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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=471",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=469",
"results": [
{
"created": "2024-04-09T16:52:02.783402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1687",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004485; Phenotypes: holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-09T16:34:25.874241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1687",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CENPE: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004413; Phenotypes: autosomal recessive primary microcephaly MONDO:0016660; Mode of inheritance: None",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2024-04-09T14:59:23.618479+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004013c; Phenotypes: adrenoleukodystrophy (MONDO:0018544); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-09T14:49:47.513104+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.295",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 1626954, https://search.clinicalgenome.org/CCID:005305; Phenotypes: Parkinson disease (MONDO:0005180); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:24:53.782778+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2545",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:24:43.361584+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5768",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:23:40.262730+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5768",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:23:40.244379+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2545",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:22:47.768278+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.233",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:22:40.784261+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.232",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-09T11:22:12.301852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-04-08T19:52:47.315692+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.8",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006276; Phenotypes: amyotrophic lateral sclerosis (MONDO:0004976); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SS18L1",
"entity_type": "gene"
},
{
"created": "2024-04-08T16:39:24.734236+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.8",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CYLD: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004615; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (MONDO:0030872); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2024-04-08T16:36:12.729752+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.8",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004450; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MONDO:0010936); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHMP2B",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:42:26.290524+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: DMD were set to 27417533",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2024-04-07T13:42:01.594249+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: FAME7 were set to 29507423",
"entity_name": "FAME7",
"entity_type": "str"
},
{
"created": "2024-04-07T13:41:53.199108+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FAME7 as Amber List (moderate evidence)",
"entity_name": "FAME7",
"entity_type": "str"
},
{
"created": "2024-04-07T13:41:53.183425+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fame7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAME7",
"entity_type": "str"
},
{
"created": "2024-04-07T13:41:44.519918+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: FAME7: Added comment: TTTCA expansion (without TTTTA expansion) identified in 3 affected individuals in a Chinese FAME family and another unrelated Japanese proband. Now 3 families reported.; Changed rating: AMBER; Changed publications: 29507423, 30351492, 33791773",
"entity_name": "FAME7",
"entity_type": "str"
},
{
"created": "2024-04-07T13:27:56.911752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from Glaucoma 1, open angle, H, MIM# 611276; Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder to Doyne honeycomb degeneration of retina, MIM# 126600; Cutis laxa, autosomal recessive, type ID, MIM# 620780; Glaucoma 1, open angle, H, MIM# 611276",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:27:02.739128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EFEMP1: Changed phenotypes: Doyne honeycomb degeneration of retina, MIM# 126600, Cutis laxa, autosomal recessive, type ID, MIM# 620780, Glaucoma 1, open angle, H, MIM# 611276",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:26:31.945190+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from EFEMP1-related connective tissue disorder; cutis laxa to Cutis laxa, autosomal recessive, type ID, MIM# 620780",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:25:55.145147+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EFEMP1: Changed phenotypes: Cutis laxa, autosomal recessive, type ID, MIM# 620780",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:24:28.014315+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALE as ready",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:24:27.999591+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:24:22.241207+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALE as Green List (high evidence)",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:24:22.230389+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:23:51.134323+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALE was added\ngene: GALE was added to Bone Marrow Failure. Sources: Expert Review\nMode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALE were set to 30247636; 34159722; 36395340\nPhenotypes for gene: GALE were set to Thrombocytopenia 12, syndromic, MIM#620776\nReview for gene: GALE was set to GREEN\nAdded comment: 10 individuals from 5 families reported with bi-allelic variants in this gene and congenital thrombocytopenia resulting in increased bleeding. Platelets were enlarged (macrothrombocytopenia) and/or gray and had functional defects. Some individuals have infection-induced leukopenia or anaemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development. \nSources: Expert Review",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:22:22.673553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALE were changed from Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism to Galactose epimerase deficiency MIM#230350; Thrombocytopenia 12, syndromic, MIM#620776",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:21:55.606897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALE were set to 27604308; 9700591",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:21:26.537299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30247636, 34159722, 36395340; Phenotypes: Thrombocytopenia 12, syndromic, MIM#620776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:21:07.423814+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALE as ready",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:21:07.413284+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:20:36.864523+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALE as Green List (high evidence)",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:20:36.846542+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T13:19:52.294537+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALE was added\ngene: GALE was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALE were set to 30247636; 34159722; 36395340\nPhenotypes for gene: GALE were set to Thrombocytopenia 12, syndromic, MIM#620776\nReview for gene: GALE was set to GREEN\nAdded comment: 10 individuals from 5 families reported with bi-allelic variants in this gene and congenital thrombocytopenia resulting in increased bleeding. Platelets were enlarged (macrothrombocytopenia) and/or gray and had functional defects. Some individuals have infection-induced leukopenia or anaemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development. \nSources: Expert list",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-04-07T12:57:24.948816+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Another case with BMD (patient 18) form a Japanese registry was reported with an expansion of 1381–1502 repeats in intron 62.; to: Another case with BMD (patient 18) form a Japanese registry was reported with an expansion of 1381–1502 repeats in intron 62. Repeat expansion causes a splicing aberration",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2024-04-07T12:56:31.552200+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: DMD as Amber List (moderate evidence)",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2024-04-07T12:56:31.539172+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dmd has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2024-04-07T12:56:15.312344+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: DMD: Added comment: Another case with BMD (patient 18) form a Japanese registry was reported with an expansion of 1381–1502 repeats in intron 62.; Changed rating: AMBER; Changed publications: 27417533, 36048237",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2024-04-07T11:55:50.177278+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HFGS_tract2 as ready",
"entity_name": "HFGS_tract2",
"entity_type": "str"
},
{
"created": "2024-04-07T11:55:50.164498+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hfgs_tract2 has been classified as Green List (High Evidence).",
"entity_name": "HFGS_tract2",
"entity_type": "str"
},
{
"created": "2024-04-07T11:41:57.396329+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA_THAP11_CAG as ready",
"entity_name": "SCA_THAP11_CAG",
"entity_type": "str"
},
{
"created": "2024-04-07T11:41:57.374370+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca_thap11_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCA_THAP11_CAG",
"entity_type": "str"
},
{
"created": "2024-04-07T11:41:46.150946+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA_THAP11_CAG as Amber List (moderate evidence)",
"entity_name": "SCA_THAP11_CAG",
"entity_type": "str"
},
{
"created": "2024-04-07T11:41:46.134805+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca_thap11_cag has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCA_THAP11_CAG",
"entity_type": "str"
},
{
"created": "2024-04-07T11:41:38.189975+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA_THAP11_CAG was added\nSTR: SCA_THAP11_CAG was added to Repeat Disorders. Sources: Other\nMode of inheritance for STR: SCA_THAP11_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA_THAP11_CAG were set to 15368101; 24677642; 34165550; 38113319\nPhenotypes for STR: SCA_THAP11_CAG were set to autosomal dominant cerebellar ataxia MONDO:0020380\nReview for STR: SCA_THAP11_CAG was set to AMBER\nAdded comment: 7 individuals from 2 Chinese families with SCA (1 was pre-ataxic) and a THAP11 CAG (polyQ) expansion. 45 repeats was the lowest number of repeats in an affected individual. A 46/29 CAG THAP11 genotype has also been identified in an individual with ataxia of European ancestry, that also had a CACNA1A pathogenic expansion which causes SCA6. Analysis of the 1000 genomes cohort (n=2504), suggests a normal range between 19-39. Also, a supporting mouse model and functional assays support a toxic aggregation mechanism of disease.\r\nFurther probands/families are required to confirm the gene-disease association. \nSources: Other",
"entity_name": "SCA_THAP11_CAG",
"entity_type": "str"
},
{
"created": "2024-04-06T18:30:16.305256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BANF1 were changed from Nestor-Guillermo progeria syndrome, MIM# 614008 to Nestor-Guillermo progeria syndrome, MIM# 614008; Neurodevelopmental disorder, MONDO:0700092, BANF1-related; Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:29:57.826744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BANF1 were set to 32783369; 21549337",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:29:37.877072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BANF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:29:19.755071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two Spanish families reported but likely founder effect. One additional family. Lipoatrophy reported.; to: Bi-allelic disease: Two Spanish families reported with progeria but likely founder effect. One additional family. Lipoatrophy reported.",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:28:51.099486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BANF1: Added comment: PMID 35982159: Single individual reported with a de novo variant, p.Ala87Thr, and a neurodevelopmental disorder. \r\n\r\nPMID 36980188: Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related; Changed publications: 32783369, 21549337, 35982159, 36980188; Changed phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008, Neurodevelopmental disorder, MONDO:0700092, BANF1-related, Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:26:41.372945+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BANF1 as ready",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:26:41.342838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Red List (Low Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T18:26:32.027916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BANF1 was added\ngene: BANF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BANF1 were set to 35982159\nPhenotypes for gene: BANF1 were set to Neurodevelopmental disorder, MONDO:0700092, BANF1-related\nReview for gene: BANF1 was set to RED\nAdded comment: Single individual reported with a de novo variant, p.Ala87Thr, and a neurodevelopmental disorder. \nSources: Literature",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2024-04-06T14:51:53.771286+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: OPDM_ABCD3_GCC as ready",
"entity_name": "OPDM_ABCD3_GCC",
"entity_type": "str"
},
{
"created": "2024-04-06T14:51:53.757715+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).",
"entity_name": "OPDM_ABCD3_GCC",
"entity_type": "str"
},
{
"created": "2024-04-06T14:51:42.196148+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPDM_ABCD3_GCC as Green List (high evidence)",
"entity_name": "OPDM_ABCD3_GCC",
"entity_type": "str"
},
{
"created": "2024-04-06T14:51:42.178045+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).",
"entity_name": "OPDM_ABCD3_GCC",
"entity_type": "str"
},
{
"created": "2024-04-06T14:51:33.461327+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPDM_ABCD3_GCC was added\nSTR: OPDM_ABCD3_GCC was added to Repeat Disorders. Sources: Other\nMode of inheritance for STR: OPDM_ABCD3_GCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM_ABCD3_GCC were set to https://doi.org/10.1101/2023.10.09.23296582\nPhenotypes for STR: OPDM_ABCD3_GCC were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: OPDM_ABCD3_GCC was set to GREEN\nSTR: OPDM_ABCD3_GCC was marked as clinically relevant\nAdded comment: 35 OPDM individuals from 8 unrelated families from Australia, the UK, and France with an ABCD3 5’UTR CGG repeat. Affected individuals had repeat expansions ranging from 118-694 (n=19). 7 repeats is the median repeat size in non-neurological controls from the GE 100,000 Genome Project. 10 controls had estimated repeats >50, up to ~93. 50 repeats would be a safe cut-off for normal \nSources: Other",
"entity_name": "OPDM_ABCD3_GCC",
"entity_type": "str"
},
{
"created": "2024-04-05T08:27:38.786940+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FILIP1 as ready",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:27:38.777925+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:27:10.390494+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FILIP1 as Green List (high evidence)",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:27:10.378888+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Green List (High Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:26:34.965313+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FILIP1 was added\ngene: FILIP1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FILIP1 were set to 36943452; 37163662\nPhenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775\nReview for gene: FILIP1 was set to GREEN\nAdded comment: Congenital neuromuscular disorder with dysmorphic facies (NMDF) is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth. Affected individuals may show motor delay, speech delay, and impaired intellectual development. \r\n\r\nSeven families reported. \nSources: Expert Review",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:24:21.910136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related to ANeuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:24:05.935240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:23:33.243740+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:23:01.078003+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:22:39.995356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:22:21.158339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:22:04.475419+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168, FILIP1-related to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:21:25.700520+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:14:03.699135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4-2 as ready",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:14:03.686949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:13:30.149989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU4-2 as Green List (high evidence)",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:13:30.133766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:13:12.309395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4-2 was added\ngene: RNU4-2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related\nReview for gene: RNU4-2 was set to GREEN\nAdded comment: Emerging evidence that de novo variants in this gene cause ID. \nSources: Literature",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:12:55.158559+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4-2 as ready",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:12:55.140135+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:12:15.595015+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU4-2 as Green List (high evidence)",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:12:15.586592+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:11:41.571111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4-2 was added\ngene: RNU4-2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related\nReview for gene: RNU4-2 was set to GREEN\nAdded comment: Emerging evidence that de novo variants in this gene cause ID. \nSources: Literature",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:07:11.446984+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YKT6 as ready",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:07:11.434169+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ykt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:07:07.796243+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YKT6 as Amber List (moderate evidence)",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:07:07.788128+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ykt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:06:57.817562+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YKT6 was added\ngene: YKT6 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: YKT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YKT6 were set to 38522068\nPhenotypes for gene: YKT6 were set to Syndromic disease, MONDO:0002254, YKT6-related\nReview for gene: YKT6 was set to AMBER\nAdded comment: Two individuals homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] exhibited normal prenatal course followed by failure to thrive, developmental delay and progressive liver disease. Haplotype analysis identified a shared homozygous region flanking the variant, suggesting a common ancestry. The third individual homozygous for YKT6 [NM_006555.3:c.191A>G p.(Tyr64Cys)] exhibited neurodevelopmental disorders and optic atrophy. Supportive functional data in Drosophila. Amber rating due to homozygous missense variants and founder effect in two of the families. \nSources: Literature",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:06:44.356578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YKT6 as ready",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:06:44.339875+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ykt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:05:46.577622+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YKT6 as Amber List (moderate evidence)",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:05:46.564862+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ykt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:05:12.983522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YKT6 was added\ngene: YKT6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: YKT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YKT6 were set to 38522068\nPhenotypes for gene: YKT6 were set to Syndromic disease, MONDO:0002254, YKT6-related\nReview for gene: YKT6 was set to AMBER\nAdded comment: Two individuals homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] exhibited normal prenatal course followed by failure to thrive, developmental delay and progressive liver disease. Haplotype analysis identified a shared homozygous region flanking the variant, suggesting a common ancestry. The third individual homozygous for YKT6 [NM_006555.3:c.191A>G p.(Tyr64Cys)] exhibited neurodevelopmental disorders and optic atrophy. Supportive functional data in Drosophila. Amber rating due to homozygous missense variants and founder effect in two of the families. \nSources: Literature",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:04:37.648725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YKT6 as ready",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:04:37.631757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ykt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:03:31.434097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YKT6 as Amber List (moderate evidence)",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:03:31.423358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ykt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T08:03:12.170093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YKT6 was added\ngene: YKT6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YKT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YKT6 were set to 38522068\nPhenotypes for gene: YKT6 were set to Syndromic disease, MONDO:0002254, YKT6-related\nReview for gene: YKT6 was set to AMBER\nAdded comment: Two individuals homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] exhibited normal prenatal course followed by failure to thrive, developmental delay and progressive liver disease. Haplotype analysis identified a shared homozygous region flanking the variant, suggesting a common ancestry. The third individual homozygous for YKT6 [NM_006555.3:c.191A>G p.(Tyr64Cys)] exhibited neurodevelopmental disorders and optic atrophy. Supportive functional data in Drosophila.\r\n\r\nAmber rating due to homozygous missense variants and founder effect in two of the families. \nSources: Literature",
"entity_name": "YKT6",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:58:32.975226+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPHS1 as ready",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:58:32.966330+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sephs1 has been classified as Green List (High Evidence).",
"entity_name": "SEPHS1",
"entity_type": "gene"
}
]
}