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{
"count": 211364,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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"results": [
{
"created": "2023-12-08T22:13:13.074828Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: NME5 as Amber List (moderate evidence)",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:13:13.070618Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and zebrafish model) for the promotion of this gene to green rating in the next GMS update.",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:13:13.047759Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:11:50.555772Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:11:42.147873Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: NME5 were set to 32185794; 31479451",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:11:11.280402Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: NME5.\nTag Q4_23_NHS_review tag was added to gene: NME5.",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:10:52.068579Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Two unrelated cases were reported with biallelic NME5 variants. One patient was homozygous for p.Trp191Ter variant, while other was compound heterozygous with the same variant and p.Tyr160PhefsTer11. In addition, morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.; to: Two unrelated cases were reported with biallelic NME5 variants. One patient was homozygous for p.Trp191Ter variant, while other was compound heterozygous with the same variant and p.Tyr160PhefsTer11. In addition, morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620032) and Gene2Phenotype (with 'definitive' rating in the DD panel).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T22:09:22.205375Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32185794, 37957793; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T20:56:26.742435Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: FOXJ1 as Amber List (moderate evidence)",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2023-12-08T20:56:26.738309Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2023-12-08T20:56:26.715103Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2023-12-08T20:55:01.611779Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: FOXJ1 were set to 31630787",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2023-12-08T20:54:40.654862Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: FOXJ1.\nTag Q4_23_NHS_review tag was added to gene: FOXJ1.",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2023-12-08T20:54:16.332561Z",
"panel_name": "Respiratory ciliopathies including non-CF bronchiectasis",
"panel_id": 550,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:34:22.257445Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.44",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. \r\n\r\nAs the myopathy was caused by metabolic deficiency, this gene should be added to this panel.\r\nSources: Literature; to: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. \r\n\r\nAs myopathy is caused by metabolic deficiency, this gene should be added to this panel.\r\nSources: Literature",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:34:01.977168Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.44",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. \nSources: Literature; to: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. \r\n\r\nAs the myopathy was caused by metabolic deficiency, this gene should be added to this panel.\r\nSources: Literature",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:32:57.923096Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.44",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ABHD5 as Amber List (moderate evidence)",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:32:57.919469Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.44",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in this panel in the next GMS review.",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:32:57.901400Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.44",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:31:40.739554Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.43",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: ABHD5.",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:31:30.702737Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.43",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: ABHD5 was added\ngene: ABHD5 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD5 were set to 33455044\nPhenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, OMIM:275630\nReview for gene: ABHD5 was set to GREEN\nAdded comment: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. \nSources: Literature",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:23:59.947263Z",
"panel_name": "Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies",
"panel_id": 185,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: ABHD5: Added comment: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle dystrophy/ weakness and the myopathy caused was due to metabolic disorder.; Changed publications to: 33455044; Changed phenotypes to: Chanarin-Dorfman syndrome, OMIM:275630",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:12:53.633409Z",
"panel_name": "Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies",
"panel_id": 185,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ABHD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, OMIM<; Mode of inheritance: None",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:02:03.218528Z",
"panel_name": "Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies",
"panel_id": 185,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy\t610717 to Neutral lipid storage disease with myopathy, OMIM:610717",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:01:23.760840Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: PNPLA2 as Amber List (moderate evidence)",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:01:23.755638Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are sufficient number of cases associating biallelic PNPLA2 variants to muscle and upper and lower limb weakness and dystrophy of shoulder girdle. Hence, this gene can be promoted to GREEN in this panel at the next GMS update.\r\n\r\nThis gene has also been associated with phenotypes in both OMIM (MIM #610717) and Gene2Phenotype (with 'strong' rating in DD panel).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T19:01:23.735919Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.42",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: pnpla2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:58:41.909344Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:58:18.099894Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy\t610717 to Neutral lipid storage disease with myopathy, OMIM:610717",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:57:47.620577Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.40",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: PNPLA2.\nTag Q4_23_promote_green tag was added to gene: PNPLA2.",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:57:06.333251Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.40",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:57:06.144041Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "3.40",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: PNPLA2 was added\ngene: PNPLA2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Amber\nQ2_23_promote_green tags were added to gene: PNPLA2.\nMode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA2 were set to 18952067; 21544567; 25956450; 32269696\nPhenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy\t610717",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:36:00.741629Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Secondary dystroglycanopathy; Developmental delay with hypotonia, myopathy, and brain abnormalities to Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:35:36.155968Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: GOLGA2: Changed phenotypes to: Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:29:34.912112Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: GOLGA2 as Amber List (moderate evidence)",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:29:34.907820Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated cases and zebrafish model in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:29:34.881111Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:28:10.676723Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Secondary dystroglycanopathy to Secondary dystroglycanopathy; Developmental delay with hypotonia, myopathy, and brain abnormalities",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:27:52.194539Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: GOLGA2 were set to 26742501; 30237576",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:27:33.053918Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: GOLGA2.\nTag Q4_23_NHS_review tag was added to gene: GOLGA2.",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:26:59.868742Z",
"panel_name": "Congenital muscular dystrophy",
"panel_id": 207,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:13:01.643919Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: FKRP as Amber List (moderate evidence)",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:13:01.637830Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene should be considered for promotion to green rating in this panel in the next GMS review.",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:13:01.612355Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:12:22.510835Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:12:14.181090Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:11:43.748846Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: FKRP.\nTag Q4_23_NHS_review tag was added to gene: FKRP.",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:11:24.470490Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:32914449 reviewed 56 patients with limb-girdle muscular dystrophy and biallelic FKRP variants, of which 45% of patients had dilated cardiomyopathy as part of the phenotype with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other variants.\r\n\r\nDilated cardiomyopathy was also reported as part of the LGMD phenotype in both OMIM (MIM #607155) and Gene2Phenotype.; to: As reviewed by Oliver Watkinson, the limb-girdle muscular dystrophy phenotype caused by biallelic FKRP variants includes dilated cardiomyopathy as part of the phenotype. \r\n\r\nPMID:32914449 reviewed 56 patients with limb-girdle muscular dystrophy and biallelic FKRP variants, of which 45% of patients had dilated cardiomyopathy as part of the phenotype with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other variants.\r\n\r\nThere were also a number of cases reported with dilated cardiomyopathy being the presenting condition and preceding overt skeletal muscle disease as noted by Oliver Watkinson including the recent case that he has seen in hospital.\r\n\r\nDilated cardiomyopathy was also reported as part of the LGMD phenotype in both OMIM (MIM #607155) and Gene2Phenotype.",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T18:05:20.264191Z",
"panel_name": "Dilated and arrhythmogenic cardiomyopathy",
"panel_id": 652,
"panel_version": "2.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914449; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:02:09.780354Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: KMT2B.\nTag Q4_23_promote_green tag was added to gene: KMT2B.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:02:04.884996Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.345",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: KMT2B.\nTag Q4_23_promote_green tag was added to gene: KMT2B.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:01:28.500912Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: RPE65.\nTag Q4_23_MOI tag was added to gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:01:10.903427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_MOI was removed from gene: RPE65.\nTag Q4_23_promote_green tag was added to gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-08T12:37:44.648180Z",
"panel_name": "Ataxia and cerebellar anomalies - narrow panel",
"panel_id": 477,
"panel_version": "4.40",
"user_name": "Nour Elkhateeb",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 38044746; 36994644; 28251416\nPhenotypes for gene: ASL were set to Ataxia\nAdded comment: Ataxia has been reported in multiple individuals with argininosuccinic aciduria (PMID 38044746, 36994644, 28251416). \nSources: Literature",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2023-12-08T12:32:47.761818Z",
"panel_name": "Childhood onset dystonia, chorea or related movement disorder",
"panel_id": 847,
"panel_version": "3.56",
"user_name": "Nour Elkhateeb",
"item_type": "entity",
"text": "reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: 38044746, 36994644, 28251416; Phenotypes: Movement disorder, tremor, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:06:42.202941Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Leber congenital amaurosis 2, OMIM:204100 (AR); Retinitis pigmentosa 20, OMIM:613794 (AR); Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:05:20.310511Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RPE65 were set to ",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T15:52:53.093596Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_MOI tag was added to gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T15:52:37.267693Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Biallelic variants cause retinitis pigmentosa and leber congenital amaurosis. Heterozygous variants have also been found in at least 4 unrelated families with choroid/retinal atrophy that mimics certain aspects of choroideremia (PMIDs: 21654732; 27307694; 29947567).\r\n\r\nThis supports a change in MOI from biallelic to both mono- and biallelic at the next GMS panel update.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T15:52:37.208308Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:17:43.628554Z",
"panel_name": "Childhood onset dystonia, chorea or related movement disorder",
"panel_id": 847,
"panel_version": "3.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset 617284; early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:17:36.776130Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.122",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:17:09.534105Z",
"panel_name": "Adult onset neurodegenerative disorder",
"panel_id": 474,
"panel_version": "4.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; early-onset dystonia",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:17:03.024266Z",
"panel_name": "Structural basal ganglia disorders",
"panel_id": 180,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset\t617284 to Dystonia 28, childhood-onset, OMIM:617284; early-onset dystonia",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:16:57.450801Z",
"panel_name": "Early onset dystonia",
"panel_id": 192,
"panel_version": "1.147",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; early-onset dystonia",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:13:19.888616Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia. \r\n\r\nMicrocephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating. \nSources: Literature; to: At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia. \r\n\r\nMicrocephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating at the next GMS panel update.\r\nSources: Literature",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:12:59.822153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: KMT2B as Amber List (moderate evidence)",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:12:59.810786Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:12:53.307993Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: KMT2B was added\ngene: KMT2B was added to Severe microcephaly. Sources: Literature\nQ3_23_promote_green tags were added to gene: KMT2B.\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2B were set to 27839873; 27839873; 33150406\nPhenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934\nReview for gene: KMT2B was set to GREEN\nAdded comment: At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia. \r\n\r\nMicrocephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating. \nSources: Literature",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:07:05.261504Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.345",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: KMT2B as Amber List (moderate evidence)",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:07:05.244244Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.345",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Inclusion on this panel would also ensure this gene is included on the Paediatric disorders super panel which is appropriate for the phenotype.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:07:05.210292Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.345",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T16:56:54.935595Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.344",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset, 617284 to Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T16:56:17.973693Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.343",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KMT2B were set to 25529582; 27839873; 27992417; 29276005; 25405613; 29289525; 29697234; 31216378",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T16:55:37.280658Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.342",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: KMT2B.\nTag Q3_23_promote_green tag was added to gene: KMT2B.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T16:55:01.696272Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.342",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: KMT2B: Rating: ; Mode of pathogenicity: None; Publications: 33150406; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T13:48:50.808455Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. Of the published reports of microcephaly 50% (7/14) can be regarded as being severe, with a occipitofrontal circumference (OFC) below -3.0 standard deviations below the mean for age (PMID: 33941880 (including a review of previously published reports S4 table, PMID: 33276791).; to: Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. PMID: 33941880 reports three NSD2 variants in three unrelated cases of Rauch-Steindl syndrome (OMIM:619695), who have severe microcephaly (Occipitofrontal circumference (OFC) below >3.0 SD). Similarly, PMID: 33276791 reports a case with \r\nOFC of 44 cm (<−3SD). Further cases are examined in the supplementary table 4 in PMID: 33941880 ",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:44:30.680337Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NSD2 as Amber List (moderate evidence)",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:44:30.674162Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:44:30.630153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nsd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:42:37.627696Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: NSD2.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:42:13.653769Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:31:15.519224Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.342",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from Intrauterine growth retardation; Growth delay; Microcephaly; Muscular hypotonia; Neurodevelopmental delay; Intellectual disability; No OMIM number to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:31:06.819185Z",
"panel_name": "Severe Paediatric Disorders",
"panel_id": 921,
"panel_version": "1.178",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from Wolf-Hirschhorn syndrome to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:30:47.969358Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "3.79",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from NSD2-related developmental disorder (monoallelic) to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:30:28.171051Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:29:41.667058Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from microcephaly, MONDO:0001149 to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:28:15.704394Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NSD2 were set to 30345613; 31171569; 29760529; 29892088",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T10:09:25.200241Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.341",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: C20orf24 was added\ngene: C20orf24 was added to Intellectual disability - microarray and sequencing. Sources: Literature\nMode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C20orf24 were set to 35614220\nPhenotypes for gene: C20orf24 were set to ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2\nAdded comment: HGNC Approved Gene Symbol: RAB5IF\r\nPMID: 35614220 (2022) identified a homozygous nonsense variant (p.W25X) in a Turkish boy previously reported by PMID: 24194475 to have bilateral cleft lip, complete cleft palate, moderate to severe intellectual delay and dysmorphic features. FHx of cleft lip/cleft palate as well in relatives who were heterozygous for the reported variant \nSources: Literature",
"entity_name": "C20orf24",
"entity_type": "gene"
},
{
"created": "2023-12-04T16:59:46.049822Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.125",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: DUT was added\ngene: DUT was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome\nReview for gene: DUT was set to AMBER\nAdded comment: PMID: 28073829 (2017) - two unrelated consanguineous families with diabetes and bone marrow aplasia, both homozygous for p.Y142C\r\nPMID: 35611808 (2022) - another family, two affected children with thrombocytopenia, macrocytosis, with or without anemia, followed by non-autoimmune diabetes. Same homozygous missense variant identified as before\r\nPMID: 35931051 (2022) - identified probands who came from two independent families, had bi-allelic DUT variants, and presented with severe pancytopenia and mucocutaneous skin features. Information in supplementary materials. One patient homozygous for p.Tyr142Cys and the other compound het for p.Arg173Trp and p.Tyr227Cys \nSources: Literature",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2023-12-04T16:42:45.871251Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.113",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: PCK2 was added\ngene: PCK2 was added to Mitochondrial disorders. Sources: Literature\nMode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCK2 were set to 36845668\nPhenotypes for gene: PCK2 were set to Abnormal gait; peripheral neuropathy\nReview for gene: PCK2 was set to AMBER\nAdded comment: PMID: 36845668 (2023) identified three patients in two families with a common phenotype and likely pathogenic variants in PCK2:\r\nA 3-year-old girl with ataxia and weakness, who was found to be compound heterozygous for p.Ser23Ter and p.Pro170Leu\r\nTwo siblings with abnormal gait and weakness who were found to both be homozygous for p.Arg193Ter. Unaffected sibling did not carry the variant \nSources: Literature",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2023-12-04T16:35:24.945263Z",
"panel_name": "Likely inborn error of metabolism - targeted testing not possible",
"panel_id": 467,
"panel_version": "4.77",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: LDHD was added\ngene: LDHD was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature\nMode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LDHD were set to 30931947; 31638601\nPhenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout\nReview for gene: LDHD was set to AMBER\nAdded comment: PMID: 30931947 (2019) reported two unrelated patients with homozygous missense variants in LDHD (p.Thr463Met and p.Trp374Cys)\r\nPMID: 31638601 (2019) reported a 4-generation consanguineous Bedouin-Israeli family with autosomal recessive hyperuricemia. A homozygous missense variant in LDHD was identified (p.R370W) \nSources: Literature",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2023-12-04T16:15:39.243913Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.125",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743; 30264912",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-12-04T16:12:55.506600Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.124",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, Mycobacteriosis, 614889; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria and Salmonella; Defects in Intrinsic and Innate Immunity to Immunodeficiency 28, mycobacteriosis, OMIM:614889",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-12-04T14:36:19.356447Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.113",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: SLC25A36 was added\ngene: SLC25A36 was added to Mitochondrial disorders. Sources: Literature\nMode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A36 were set to 34576089; 34971397; 36695547\nPhenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8\nReview for gene: SLC25A36 was set to GREEN\nAdded comment: More than three cases reported in past three years\r\nPMID: 34576089 (2021) - first case, a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. Homozygous frameshift variant identified c.803dupT, p.Ser269llefs*35\r\nPMID: 34971397 (2022) - two siblings with homozygous splice site variant\r\nPMID: 36695547 (2023) - four individuals of two Bedouin Israeli related families - same homozygous splice site variant identified \nSources: Literature",
"entity_name": "SLC25A36",
"entity_type": "gene"
},
{
"created": "2023-12-04T14:14:06.806799Z",
"panel_name": "Ataxia and cerebellar anomalies - narrow panel",
"panel_id": 477,
"panel_version": "4.40",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 33682303, 33682303; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2023-12-04T14:03:05.748185Z",
"panel_name": "Likely inborn error of metabolism - targeted testing not possible",
"panel_id": 467,
"panel_version": "4.77",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: ACACA was added\ngene: ACACA was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature\nMode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACACA were set to 34552920\nPhenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency\nReview for gene: ACACA was set to AMBER\nAdded comment: PMID: 34552920 (2021) reported a baby who presented in her first two years of life with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. Two VUS's in ACACA were identified, and a decreased level of ACC1 and ACC1 enzyme activity was detected in patient-derived lymphocytes. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate. \nSources: Literature",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2023-12-04T13:45:53.446618Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.113",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: MRPS28 was added\ngene: MRPS28 was added to Mitochondrial disorders. Sources: Literature\nMode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS28 were set to 30566640\nPhenotypes for gene: MRPS28 were set to ?Combined oxidative phosphorylation deficiency 47\nReview for gene: MRPS28 was set to AMBER\nAdded comment: PMID: 30566640 (2019) reported a 30-year-old man with a multisystemic mitochondrial disorder and compound heterozygous variants in the MRPS28 gene. Patient fibroblasts showed decreased MRPS28 protein levels compared to controls. There were variable deficiencies of complexes I, III, IV, and V activities and complex assembly associated with decreased mitochondrial respiration activity in vitro. Additional studies of patient fibroblasts showed impaired assembly of the small mitoribosomal subunit (bS1m, encoded by MRPS28), decreased levels of 12S rRNA, and impaired mitochondrial translation. These defects could be rescued by expression of wildtype MRPS28 \nSources: Literature",
"entity_name": "MRPS28",
"entity_type": "gene"
},
{
"created": "2023-12-04T13:42:33.014471Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.113",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: MRPS25 was added\ngene: MRPS25 was added to Mitochondrial disorders. Sources: Literature\nMode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS25 were set to 31039582\nPhenotypes for gene: MRPS25 were set to ?Combined oxidative phosphorylation deficiency 50\nReview for gene: MRPS25 was set to AMBER\nAdded comment: PMID: 31039582 (2019) reported a 25-year-old man, born of unrelated parents, with a mitochondrial encephalomyopathy and a homozygous missense variant in the MRPS25 gene (P72L). Patient fibroblasts showed decreased protein levels of MRPS25, about one-tenth of controls. Levels of other polypeptides of the 28S ribosomal subunit were also decreased, suggesting that the mutation adversely affected assembly or stability of the 28S subunit. Further in vitro studies of patient fibroblasts showed impaired mitochondrial translation and decreased protein levels of respiratory chain complexes I, III, and IV. Expression of wildtype MRPS25 in patient fibroblasts resulted in partial restoration of OXPHOS protein levels. The findings suggested that MRPS25 is required for mitochondrial protein synthesis, and that this defect causes decreased levels of mitochondrial respiratory chain subunits and impaired mitochondrial translation. \nSources: Literature",
"entity_name": "MRPS25",
"entity_type": "gene"
},
{
"created": "2023-12-04T13:40:09.555638Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.113",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: MIEF2 was added\ngene: MIEF2 was added to Mitochondrial disorders. Sources: Literature\nMode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIEF2 were set to 29361167\nPhenotypes for gene: MIEF2 were set to ?Combined oxidative phosphorylation deficiency 49\nReview for gene: MIEF2 was set to AMBER\nAdded comment: PMID: 29361167 (2018) reported a 15-year-old boy, born of consanguineous Jewish parents, with combined oxidative phosphorylation deficiency-49 and a homozygous nonsense variant in the MIEF2 gene (Q92X). Patient skeletal muscle and fibroblasts showed a combined decrease in mitochondrial respiratory chain enzymes, particularly complexes I and IV, elongated mitochondria with abnormal cristae, decreased mitochondrial fission, and increased fusion events. The cellular phenotype could be rescued by expression of wildtype MIEF2. The findings were consistent with a defect in mitochondrial dynamics \nSources: Literature",
"entity_name": "MIEF2",
"entity_type": "gene"
}
]
}