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{
"count": 178427,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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"results": [
{
"created": "2022-01-20T19:22:11.401029Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.119",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: MEST: Rating: RED; Mode of pathogenicity: None; Publications: 20082469, 18585117, 11754049; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MEST",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:12:21.718644Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.119",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: MEST were changed from to Silver-Russell syndrome 2, OMIM:618905",
"entity_name": "MEST",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:09:09.531148Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.118",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MEST were set to 30794780; 11754049; http://igc.otago.ac.nz/home.html",
"entity_name": "MEST",
"entity_type": "gene"
},
{
"created": "2022-01-20T17:24:59.846301Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.117",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GRB10 as Amber List (moderate evidence)",
"entity_name": "GRB10",
"entity_type": "gene"
},
{
"created": "2022-01-20T17:24:59.833831Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.117",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: grb10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRB10",
"entity_type": "gene"
},
{
"created": "2022-01-20T17:24:20.681495Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.116",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRB10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "GRB10",
"entity_type": "gene"
},
{
"created": "2022-01-20T17:23:28.387960Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.115",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GRB10 were changed from to Silver-Russell syndrome",
"entity_name": "GRB10",
"entity_type": "gene"
},
{
"created": "2022-01-20T17:22:57.975024Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.114",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: GRB10 were set to 30794780; http://igc.otago.ac.nz/home.html",
"entity_name": "GRB10",
"entity_type": "gene"
},
{
"created": "2022-01-20T17:22:32.064067Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.113",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: GRB10: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. GRB10 is imprinted in specific tissues and not in others (PMID:10861285). Although GRB10 has been associated with Russell-Silver Syndrome (RSS), with a 574 kb duplication at chromosome 7p12.1 (PMID: 27370225) and a report of the variant p.P95S in the maternal allele of two unrelated cases of RSS (PMID: 10856193); it would appear that this is a rare occurrence and not supported by the maternal uniparental disomy of 7q31-qter and biparental inheritance of the rest of chromosome 7 in another case of RSS (PMID: 11112662).; Changed publications to: 10861285, 10856193, 27370225, 10856193, 11112662",
"entity_name": "GRB10",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:57:45.301820Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: GDF2",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:22:13.902073Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.113",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PLAGL1 were changed from to {Diabetes mellitus, transient neonatal 1}\t, OMIM:601410",
"entity_name": "PLAGL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:20:08.050898Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.112",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PLAGL1 were set to 30794780; http://igc.otago.ac.nz/home.html",
"entity_name": "PLAGL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:19:53.977630Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PLAGL1 as Green List (high evidence)",
"entity_name": "PLAGL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:19:53.969168Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: plagl1 has been classified as Green List (High Evidence).",
"entity_name": "PLAGL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:19:42.357163Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.110",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: PLAGL1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The literature shows that PLAGL1 is a transcription factor which is subject to imprinting, resulting in the paternal allele being expressed. Transient neonatal diabetes mellitus is seen where there is an excess expression of the paternal allele, such when there is chromosome 6, paternal uniparental isodisomy of chromosome 6 and paternally inherited duplications of chromosome 6q (PMID: 7719335;8842729). These observations are supported by studie in mice (PMID: 16928428; 17084362).; Changed rating: GREEN; Changed publications to: 16928428, 7719335, 8842729, 11935319, 17084362, 10655556",
"entity_name": "PLAGL1",
"entity_type": "gene"
},
{
"created": "2022-01-20T14:35:13.721739Z",
"panel_name": "Familial pulmonary fibrosis",
"panel_id": 200,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Updated MOI from 'monoallelic' to 'biallelic' in line with comments by Helen Savage highlighting there is no evidence of heterozygous variants being associated with disease.",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2022-01-20T14:35:13.684138Z",
"panel_name": "Familial pulmonary fibrosis",
"panel_id": 200,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: SFTPB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2022-01-20T14:24:47.694572Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9003853, 10518281; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-01-20T14:17:13.699796Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23625533, 19732863; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-01-20T14:09:29.699397Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27198631, 31811098; Phenotypes: Niemann Pick disease A, Niemann Pick disease B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-01-20T13:39:28.202458Z",
"panel_name": "Familial pulmonary fibrosis",
"panel_id": 200,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HPS4 were set to 11836498, 20301464",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-01-20T13:37:07.220773Z",
"panel_name": "Familial pulmonary fibrosis",
"panel_id": 200,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HPS1 were set to 8896559, 20301464",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-01-20T13:27:19.076457Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31204009; Phenotypes: Infantile liver failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2022-01-20T13:10:32.842282Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20142534, 33720099, 17682973; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:59:04.005691Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.110",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: KCNQ1 as Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:59:04.001295Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.110",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Based on reviews in Short QT syndrome (https://panelapp.genomicsengland.co.uk/panels/224/gene/KCNQ1/#!review) & Long QT syndrome (https://panelapp.genomicsengland.co.uk/panels/76/gene/KCNQ1/#!review) panels.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:59:03.951390Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.110",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:56:02.504874Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:55:27.913878Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from Short QT syndrome 2 609621; Long QT syndrome-1 (192500); Atrial fibrillation, familial, 3 (607554); Short QT syndrome 2 (609621); Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Jervell and Lange-Nielsen syndrome (220400) to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:35:07.405596Z",
"panel_name": "Paediatric motor neuronopathies",
"panel_id": 79,
"panel_version": "1.73",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SNRPN were changed from Prader-Willi syndrome \t176270 to Prader-Willi syndrome, OMIM:176270",
"entity_name": "SNRPN",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:34:09.497356Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.108",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome, OMIM:176270",
"entity_name": "SNRPN",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:27:13.827289Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26691986, 33137351; Phenotypes: Macular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:22:09.769797Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "changed review comment from: Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4); to: Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:21:53.067442Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32455177, 33629623, 29300381, 33300174; Phenotypes: Retinal dystrophy, late-onset sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:16:36.554382Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9714005, 21425920; Phenotypes: Mevalonate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:06:12.817863Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Retinal disorders. Sources: Expert Review,Literature\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667\nPhenotypes for gene: RNU4ATAC were set to Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature\nPenetrance for gene: RNU4ATAC were set to Complete\nReview for gene: RNU4ATAC was set to GREEN\nAdded comment: Noted by OMIM to cause Roifman and Lowry-Wood syndrome, both of which have been associated with retinal dystrophy in the literature\r\nSubmitted to PanelApp as we have a patient with Lowry-Wood syndrome and a retinal dystrophy, where we believe we have found two pathogenic variants in RNU4ATAC \nSources: Expert Review, Literature",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.896385Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: ZNF408: Rating: RED; Mode of pathogenicity: ; Publications: 30998249; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZNF408",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.882431Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: WRAP73: Rating: RED; Mode of pathogenicity: ; Publications: 33693649; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP73",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.868330Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33110010, 11264130; Phenotypes: Tuberous Sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.853857Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: 28823707, 28823706; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.838464Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: EPHA2: Added comment: Harding et al. 2021 report two unrelated multi-generation families with microphthalmia and cataract with a missense or splice site variant segregating in affected members. No inheritance for second variant and no data supporting splicing effect. Variants have previously been found in families with cataracts. They also demonstrate that morpholino knockdown of EPHA2b in zebrafish caused microphthalmia. Varsome: missense = VUS; splice variant=pathogenic; Changed rating: AMBER; Changed publications to: 33671840; Changed phenotypes to: Cataract 6, multiple types, Cataract 6, multiple types 116600, 116600",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.826584Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: CRYBB3: Added comment: congenital/early onset cataract gene, no evidence for involvement in AMC - Zin et al. 2021 report a family with three members affected with paediatric cataract and microphthalmia with a missense variant in CRYBB3. They also refer to Sekeroglu et al. 2020 who described a variant affecting same residue in indiviidual affected by cataract and microphthalmia and his affected mother (cataracts).; Changed rating: AMBER; Changed publications to: 34356085, 33510601; Changed phenotypes to: Cataract 22, autosomal recessive, 609741, Cataract 22, autosomal recessive 609741",
"entity_name": "CRYBB3",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.810726Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33418956, 31176769; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.797315Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: 34587386, 25715397; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.782078Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: TMEM5: Added comment: Alharbi et al. 2021, 3 families with Walker-Warburg syndrome and homozygous pathogenic TMEM5 variants, with affected individuals in all three families presenting with microphthalmia. No mention of structural eye anomalies in original paper (Vuillaumier-Barrot et al. 2012). Jae et al. 2013 describe 3 families with biallelic pathogenic TMEM5 variants (all parents heterozygous), affected individuals in 2/3 families have microphthalmia.; Changed rating: GREEN; Changed publications to: 33199158, 23217329, 23519211; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.769947Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34468556, 34068396, 34631081, 29550517, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, 615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.755044Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 33749989, 24784881; Phenotypes: Nivelon-Nivelon-Mabille syndrome 600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.739720Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: CRIM1: Added comment: Zhang: mouse model with homozygous hypomorphic allele has cataracts and microphthalmia. Beleggia: one family with Colobomatous macrophthalmia with microcornea syndrome with a het ex15-17 deletion segregating in a large Turkish family. Haug et al. 2021 reported a het partial gene deletion affecting exon 15-17 segregating in three generations of a Portuguese/polish family with coloboma and/or microcornea. The CNVs described in these publications take out the final three exons of CRIM1 but do not involve the coding regions of any other genes. They do not appear to have the same breakpoints, and neither of them is present on DGV or decipher; Changed rating: GREEN; Changed publications to: 26681494, 25561690, 33418956, 26681494, 25561690; Changed phenotypes to: 602499, Macrophthalmia, Colobomatous, with microcornea, Macrophthalmia, Colobomatous, with microcornea 602499",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.726685Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: CENPF: Added comment: Stromme: two girls with Stromme syndrome and unilateral microcornea, later demonstrated to have compound het truncating variants by Filges, who also described another family with ocular anomalies. Ozkinay: family with two siblings with microphthalmia and Stromme syndrome with homozygous frameshift variant parents het, Alghamdi: family with two siblings with stromme syndrome: one with unilateral microphthalmia and one with corneal opacities with homozygous missense parents het;Syndrome seems mainly cataract - but sometimes with microcornea plus optic nerve coloboma and macular coloboma. Ho et al. 2022 have pubblished a further case with microphthalmia and compound het truncating variants, one inherited from mother; father n/a; Changed publications to: 31953238, 28407396, 26820108, 35001526, 8261651",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.713759Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: WDR37: Added comment: Reis et al. 2019 de novo missense variants in four unrelated families with Peter's anomaly, coloboma or microcornea. Hay et al. 2020 de novo missense variants in three unrelated families with syndromic coloboma.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.697793Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: FZD5: Added comment: Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.; Changed publications to: 32737437, 26908622; Changed phenotypes to: None, Coloboma",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.684101Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: DYRK1A: Added comment: Evers et al. 2017 described 3 individuals with coloboma/microphthalmia and de novo variants in DYRK1A among 20 individuals from the DDD study with DYRK1A haploinsufficiency syndrome. Laguna et al found that DYRK1A +/- mice have smaller eyes than their wildtype littermates.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.670501Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: CRYBB1: Added comment: Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating.Willougby et al. reported a novel stoploss variant segregating in a family with cataract and microcornea.; Changed publications to: 29386872, 31566446, 16110300; Changed phenotypes to: Cataract 17, multiple types, Cataract 17, multiple types 611544, 611544",
"entity_name": "CRYBB1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.656121Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: CDON: Added comment: Reis et al. 2020: one family with compound het splice variants; Islam et al. 2020 one family with homozygous stopgain variant segregating in parents; Berkun et al. 2019 one family with homozygous stopgain. ; Zhang et al. 2009 demonstrated that Cdo -/- mice have coloboma; Changed publications to: 32729136, 31502381, 19754878",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.633697Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: CAPN15: Added comment: Zha et al. 2020 described 4 families with structural eye anomalies with biallelic variants segregating + animal model. Mor-Shaked et al. 2021 add two siblings with biallelic variant affecting splice donor site and eye abnormalities; Changed publications to: 32885237, 33410501; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.616681Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 30194805, 31274573, 31012784, 34018898, 33251883, 24768550; Phenotypes: Traboulsi syndrome 601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.599556Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: 33027505, 27270174, 34956319, 35011756; Phenotypes: Glaucoma 3, primary congenital, E, OMIM:617272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.579998Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: OCRL: Added comment: Yuksel et al 2009. Boy with Lowe syndrome, including microphthalmia and a missense in OCRL1, inheritance not reported. Ma et al. 2020 137 individuals with Lowe syndrome, 79 had molecular confirmation of OCRL1 variant (variants not listed), 41% had developmental glaucoma. Song et al. 2017 2 individuals with Lowe Syndrome and glaucoma with truncating variants inherited from carrier mother (X-linked). Many further reports; Changed rating: GREEN; Changed publications to: 19168822, 32340490, 28473699; Changed phenotypes to: Lowe syndrome 309000, 309000, Lowe syndrome",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.565362Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Added comment: Ghoumid et al. 2016: 9/51 families with LMX1B variants and NPS have glaucoma. There are many other reports.; Changed rating: GREEN; Changed publications to: 25898926; Changed phenotypes to: Nail-patella syndrome, Nail-patella syndrome 161200, 161200",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.550488Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29703882, 31898846; Phenotypes: Aicardi-Goutieres syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:38:49.529871Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.101",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25599811, 11004107, 33629314, 19938080, 21480480; Phenotypes: Rubinstein-Taybi syndrome 1 MIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:34:06.541931Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZNF408 was added\ngene: ZNF408 was added to Structural eye disease. Sources: Expert list\nQ1_22_NHS_review tags were added to gene: ZNF408.\nMode of inheritance for gene: ZNF408 was set to Unknown\nPublications for gene: ZNF408 were set to 30998249\nPhenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72, OMIM:616469\nReview for gene: ZNF408 was set to RED\nAdded comment: Sources: Expert list",
"entity_name": "ZNF408",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:32:43.170035Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Structural eye disease. Sources: Expert list\nQ1_22_NHS_review tags were added to gene: TSC2.\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TSC2 were set to 33110010; 11264130\nPhenotypes for gene: TSC2 were set to Tuberous sclerosis-2, OMIM:613254\nReview for gene: TSC2 was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:26:01.872331Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BRPF1 was added\ngene: BRPF1 was added to Structural eye disease. Sources: Expert list\nQ1_22_rating tags were added to gene: BRPF1.\nMode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BRPF1 were set to 33418956; 31176769\nPhenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333\nReview for gene: BRPF1 was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:24:54.196004Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Structural eye disease. Sources: Expert list\nQ1_22_NHS_review tags were added to gene: WLS.\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to 34587386; 25715397\nPhenotypes for gene: WLS were set to Zaki syndrome, OMIM:619648\nReview for gene: WLS was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:23:37.434303Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.96",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PACS1 was added\ngene: PACS1 was added to Structural eye disease. Sources: Expert list\nQ1_22_NHS_review tags were added to gene: PACS1.\nMode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PACS1 were set to 29550517; 26842493; 34631081; 34468556; 34068396\nPhenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, OMIM:615009\nReview for gene: PACS1 was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-20T11:21:34.129743Z",
"panel_name": "Structural eye disease",
"panel_id": 509,
"panel_version": "1.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Structural eye disease. Sources: Expert list\nQ1_22_NHS_review tags were added to gene: HHAT.\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 33749989; 24784881\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092\nReview for gene: HHAT was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-01-20T09:59:21.442599Z",
"panel_name": "Lipodystrophy - childhood onset",
"panel_id": 546,
"panel_version": "2.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103; 25114292; 30020498",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2022-01-20T09:33:58.154145Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.277",
"user_name": "Ronnie Wright",
"item_type": "entity",
"text": "reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-01-20T09:15:12.599682Z",
"panel_name": "Pancreatitis",
"panel_id": 386,
"panel_version": "2.10",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "changed review comment from: PMID: 31930989: Heterozygous variants that affected function of the TRPV6 protein statistically over represented in cases vs controls (300 cases from Japan, 470 from France, 410 from Germany & >1000 controls). Variants that affected function of the TRPV6 product were found in 13 of 300 patients (4.3%) and 1 of 1070 control individuals (0.1%) from Japan (odds ratio [OR], 48.4; 95% confidence interval [CI], 6.3–371.7; P ¼ 2.4 10–8). Twelve of 124 patients (9.7%) with early-onset CP had such variants. In the replication set from Europe, 18 patients with CP (2.0%) carried variants that affected the function of the TRPV6 product compared with 0 control individuals (P ¼ 6.2 10–8). Homozygous mouse model given cerulein developed more severe pancreatitis than control mice (although homozygous / compound heterozygous disease in humans associated with transient neonatal hyperparathyroidism (OMIM 618188) with no reported pancreatitis). Also reported 20% had trans-heterozygous SPINK1 pathogenic variants.\r\nPMID: 32383311: Chinese case control study of 669 cases and 609 controls showed over represented of confirmed loss of function alleles (9/669 [1.35%] vs. 1/609 [0.16%]; odds ratio = 8.29; p = .022).\r\nHypothesised treatment with Vitamin D may be beneficial.\r\nLikely susceptibility allele therefore amber rating currently \r\nSources: Literature\r\n\r\nAdditional paper: PMID: 34923708 . Sequenced cohort of HCP and ICP and patients and identified 25 novel TRPV6 missense variants. Used functional Ca2+ assay to show 8 are functionally defective. Revealed two novel findings: (i) functionally deficient TRPV6 variants appear to occur more frequently in HCP/FCP patients than in ICP patients (3.2% vs. 1.5%) and (ii) functionally deficient TRPV6 variants found in HCP and FCP probands appear to be more frequently coinherited with known risk variants in SPINK1, CTRC, and/or CFTR than those found in ICP patients (66.7% vs 28.6%). Additionally, genetic analysis of available HCP and FCP family members revealed complex patterns of inheritance in some families. Therefore likely susceptibility allele as part of polygenic model. Keep at amber rating; to: PMID: 31930989: Heterozygous variants that affected function of the TRPV6 protein statistically over represented in cases vs controls (300 cases from Japan, 470 from France, 410 from Germany & >1000 controls). Variants that affected function of the TRPV6 product were found in 13 of 300 patients (4.3%) and 1 of 1070 control individuals (0.1%) from Japan (odds ratio [OR], 48.4; 95% confidence interval [CI], 6.3–371.7; P ¼ 2.4 10–8). Twelve of 124 patients (9.7%) with early-onset CP had such variants. In the replication set from Europe, 18 patients with CP (2.0%) carried variants that affected the function of the TRPV6 product compared with 0 control individuals (P ¼ 6.2 10–8). Homozygous mouse model given cerulein developed more severe pancreatitis than control mice (although homozygous / compound heterozygous disease in humans associated with transient neonatal hyperparathyroidism (OMIM 618188) with no reported pancreatitis). Also reported 20% had trans-heterozygous SPINK1 pathogenic variants.\r\nPMID: 32383311: Chinese case control study of 669 cases and 609 controls showed over represented of confirmed loss of function alleles (9/669 [1.35%] vs. 1/609 [0.16%]; odds ratio = 8.29; p = .022).\r\nHypothesised treatment with Vitamin D may be beneficial.\r\nLikely susceptibility allele therefore amber rating currently \r\nSources: Literature\r\n\r\nAdditional paper: PMID: 34923708 added 20/01/2022. Sequenced cohort of HCP and ICP and patients and identified 25 novel TRPV6 missense variants. Used functional Ca2+ assay to show 8 are functionally defective. Revealed two novel findings: (i) functionally deficient TRPV6 variants appear to occur more frequently in HCP/FCP patients than in ICP patients (3.2% vs. 1.5%) and (ii) functionally deficient TRPV6 variants found in HCP and FCP probands appear to be more frequently coinherited with known risk variants in SPINK1, CTRC, and/or CFTR than those found in ICP patients (66.7% vs 28.6%). Additionally, genetic analysis of available HCP and FCP family members revealed complex patterns of inheritance in some families. Therefore likely susceptibility allele as part of polygenic model. Keep at amber rating 22/01/22",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-20T09:14:43.404059Z",
"panel_name": "Pancreatitis",
"panel_id": 386,
"panel_version": "2.10",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "changed review comment from: PMID: 31930989: Heterozygous variants that affected function of the TRPV6 protein statistically over represented in cases vs controls (300 cases from Japan, 470 from France, 410 from Germany & >1000 controls). Variants that affected function of the TRPV6 product were found in 13 of 300 patients (4.3%) and 1 of 1070 control individuals (0.1%) from Japan (odds ratio [OR], 48.4; 95% confidence interval [CI], 6.3–371.7; P ¼ 2.4 10–8). Twelve of 124 patients (9.7%) with early-onset CP had such variants. In the replication set from Europe, 18 patients with CP (2.0%) carried variants that affected the function of the TRPV6 product compared with 0 control individuals (P ¼ 6.2 10–8). Homozygous mouse model given cerulein developed more severe pancreatitis than control mice (although homozygous / compound heterozygous disease in humans associated with transient neonatal hyperparathyroidism (OMIM 618188) with no reported pancreatitis). Also reported 20% had trans-heterozygous SPINK1 pathogenic variants.\r\nPMID: 32383311: Chinese case control study of 669 cases and 609 controls showed over represented of confirmed loss of function alleles (9/669 [1.35%] vs. 1/609 [0.16%]; odds ratio = 8.29; p = .022).\r\nHypothesised treatment with Vitamin D may be beneficial.\r\nLikely susceptibility allele therefore amber rating currently \nSources: Literature; to: PMID: 31930989: Heterozygous variants that affected function of the TRPV6 protein statistically over represented in cases vs controls (300 cases from Japan, 470 from France, 410 from Germany & >1000 controls). Variants that affected function of the TRPV6 product were found in 13 of 300 patients (4.3%) and 1 of 1070 control individuals (0.1%) from Japan (odds ratio [OR], 48.4; 95% confidence interval [CI], 6.3–371.7; P ¼ 2.4 10–8). Twelve of 124 patients (9.7%) with early-onset CP had such variants. In the replication set from Europe, 18 patients with CP (2.0%) carried variants that affected the function of the TRPV6 product compared with 0 control individuals (P ¼ 6.2 10–8). Homozygous mouse model given cerulein developed more severe pancreatitis than control mice (although homozygous / compound heterozygous disease in humans associated with transient neonatal hyperparathyroidism (OMIM 618188) with no reported pancreatitis). Also reported 20% had trans-heterozygous SPINK1 pathogenic variants.\r\nPMID: 32383311: Chinese case control study of 669 cases and 609 controls showed over represented of confirmed loss of function alleles (9/669 [1.35%] vs. 1/609 [0.16%]; odds ratio = 8.29; p = .022).\r\nHypothesised treatment with Vitamin D may be beneficial.\r\nLikely susceptibility allele therefore amber rating currently \r\nSources: Literature\r\n\r\nAdditional paper: PMID: 34923708 . Sequenced cohort of HCP and ICP and patients and identified 25 novel TRPV6 missense variants. Used functional Ca2+ assay to show 8 are functionally defective. Revealed two novel findings: (i) functionally deficient TRPV6 variants appear to occur more frequently in HCP/FCP patients than in ICP patients (3.2% vs. 1.5%) and (ii) functionally deficient TRPV6 variants found in HCP and FCP probands appear to be more frequently coinherited with known risk variants in SPINK1, CTRC, and/or CFTR than those found in ICP patients (66.7% vs 28.6%). Additionally, genetic analysis of available HCP and FCP family members revealed complex patterns of inheritance in some families. Therefore likely susceptibility allele as part of polygenic model. Keep at amber rating",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-19T09:09:18.778876Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.103",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from Infantile liver failure syndrome 2, 616483 to Infantile liver failure syndrome 2, OMIM:616483",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-01-19T09:08:43.507119Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.102",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GBE1 were set to 8613547",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2022-01-19T09:07:27.103374Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.101",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GALK1 were set to ",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-01-19T09:04:11.550223Z",
"panel_name": "Renal tubulopathies",
"panel_id": 292,
"panel_version": "2.30",
"user_name": "Detlef Bockenhauer",
"item_type": "entity",
"text": "gene: SEC61A1 was added\ngene: SEC61A1 was added to Renal tubulopathies. Sources: Literature\nMode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC61A1 were set to PMID: 33185949; 27392076; 31488840\nPhenotypes for gene: SEC61A1 were set to hyporeninaemic hypoaldosteronism; autosomal dominant tubulointerstitial kidney disease\nPenetrance for gene: SEC61A1 were set to Complete\nReview for gene: SEC61A1 was set to GREEN\nAdded comment: very few patients/families reported so far, so \"green\" status should be reviewed carefully \nSources: Literature",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2022-01-18T20:50:25.097574Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.114",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Ensembl identifier not available for GRCh38 (release 90). On GRCh it is on a patch chromosome so chromosome location not added.; to: Ensembl identifier not available for GRCh38 (release 90). On GRCh37 it is on a patch chromosome so chromosome location not added.",
"entity_name": "KIR2DL2",
"entity_type": "gene"
},
{
"created": "2022-01-18T17:37:13.321951Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.100",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301758; Phenotypes: Polyglucosan body disease, adult form; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2022-01-18T17:27:48.326577Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.100",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31761904; Phenotypes: Infantile liver failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-01-18T17:16:32.283124Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.100",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33413482, PMID: 28108845; Phenotypes: Galactokinase deficiency with cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-01-18T17:05:30.388115Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.100",
"user_name": "Miranda Durkie",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21290786; Phenotypes: Epimerase deficiency galactosemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-01-18T16:59:25.217153Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Literature search showed that rhabdomyolysis has been identified in 6 PCH-2 patients (PMIDs: 17825555; 23177318); however, only one of these individuals has a confirmed variant in TSEN54 (PMID: 23177318). Subsequent reports describing >50 individuals with TSEN54-related PCH do not provide any evidence of rhabdomyolysis in these cases (PMIDs: 20956791; 20952379).; to: Literature search showed that rhabdomyolysis has been identified in 3 PCH-2 patients (PMIDs: 17825555; 23177318); however, only one of these individuals was genetically confirmed with variants in TSEN54 (PMID: 23177318). Subsequent reports describing >50 individuals with TSEN54-related PCH do not provide any evidence of rhabdomyolysis in these cases (PMIDs: 20956791; 20952379).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-01-18T14:18:44.473090Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.107",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MEST were set to 30794780; http://igc.otago.ac.nz/home.html",
"entity_name": "MEST",
"entity_type": "gene"
},
{
"created": "2022-01-18T13:25:16.738485Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.106",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2022-01-18T13:25:16.718338Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.106",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: H19 were changed from Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all to Silver-Russell syndrome, OMIM:180860; Wilms tumor 2, OMIM:194071; Beckwith-Wiedemann syndrome, OMIM:130650",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2022-01-18T13:24:40.208990Z",
"panel_name": "Severe Paediatric Disorders",
"panel_id": 921,
"panel_version": "1.112",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: H19 were changed from Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 to Silver-Russell syndrome, OMIM:180860; Wilms tumor 2, OMIM:194071; Beckwith-Wiedemann syndrome, OMIM:130650",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2022-01-18T12:22:58.884506Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.105",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Pseudohypoparathyroidism Ia, OMIM:103580, Pseudohypoparathyroidism Ib, OMIM:603233 & Pseudohypoparathyroidism Ic, OMIM:612462 are all caused by maternally-inherited GNAS1 variants. Osseous heteroplasia, progressive, OMIM:166350 & Pseudopseudohypoparathyroidism, OMIM:612463 are caused by paternally-inherited GNAS1 variants",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-18T12:22:58.869961Z",
"panel_name": "Genomic imprinting",
"panel_id": 227,
"panel_version": "0.105",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GNAS were changed from Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a; pseudopseudohypoparathyroidism; Affected tissue: kidney, bone, brain to Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-01-17T16:52:04.063719Z",
"panel_name": "Osteogenesis imperfecta",
"panel_id": 196,
"panel_version": "2.37",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34093655; Phenotypes: OI type XIX OMIM301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:05:30.707829Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.168",
"user_name": "Jenny Simmonds",
"item_type": "entity",
"text": "reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21357617, 29129813, 24710560, 19327734; Phenotypes: Brachydactyly, type A2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:03:33.152156Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "2.65",
"user_name": "Jenny Simmonds",
"item_type": "entity",
"text": "reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 21357617, 29129813, 24710560, 19327734); Phenotypes: Brachydactyly, type A2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2022-01-17T14:51:10.432839Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PRKAG2",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-01-17T14:45:13.988991Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TYMP",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-01-17T14:39:16.740753Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)\t612073 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-01-17T14:36:43.380179Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TSFM",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-17T13:35:01.789609Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.168",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "changed review comment from: agree should be demoted to Red. \r\nDentinogenesis imperfecta appears to only affect the teeth, no evidence of OI phenotype in these cases.; to: agree should be demoted to Red. \r\nDentinogenesis imperfecta appears to only affect the teeth, no evidence of OI phenotype in reported cases.",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2022-01-17T13:34:46.505519Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.168",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dentinogenesis imperfecta; Mode of inheritance: None",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:47:23.862789Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SGCA as Amber List (moderate evidence)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:47:23.859739Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases including muscle weakness, exercise intolerance, myalgia, myoglobinuria, and hyperCKemia. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review.",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:47:23.837117Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sgca has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:45:03.790669Z",
"panel_name": "Rhabdomyolysis and metabolic muscle disorders",
"panel_id": 66,
"panel_version": "1.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_rating tag was added to gene: SGCA.",
"entity_name": "SGCA",
"entity_type": "gene"
}
]
}