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Dilated Cardiomyopathy and conduction defects v1.55 ABCC9 Rebecca Whittington commented on gene: ABCC9: OMIM#608569: Cardiomyopathy, dilated 1O; OMIM#614050: Atrial Fibrillation 12 OMIM#239850:Cantu Syndrome
Dilated Cardiomyopathy and conduction defects v1.55 SGCB Rebecca Whittington commented on gene: SGCB: Muscular dystrophy, limb-girdle, autosomal recessive 4 OMIM#604286
Dilated Cardiomyopathy and conduction defects v1.55 SDHA Rebecca Whittington commented on gene: SDHA: Cardiomyopathy, dilated, 1GG OMIM#613642; Leigh syndrome OMIM256000; Mitochondrial respiratory chain complex II deficiency OMIM#252011;Paragangliomas 5 OMIM#614165
Dilated Cardiomyopathy and conduction defects v1.55 NPPA Rebecca Whittington commented on gene: NPPA: Atrial fibrillation, familial, 6 OMIM#612201; Atrial standstill 2 OMIM#615745
Dilated Cardiomyopathy and conduction defects v1.55 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects OMIM#108900; Conotruncal heart malformations, variable OMIM#217095; Hypoplastic left heart syndrome 2 OMIM#614435; Hypothyroidism, congenital nongoitrous, 5 OMIM#225250; Tetralogy of Fallot OMIM#187500; Ventricular septal defect 3 OMMIM 614432
Dilated Cardiomyopathy and conduction defects v1.55 MPO Rebecca Whittington commented on gene: MPO: Myeloperoxidase deficiency OMIM#254600 AR; {Alzheimer disease, susceptibility to} OMIM#104300;{Lung cancer, protection against, in smokers}
Dilated Cardiomyopathy and conduction defects v1.55 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: Phenotype not listed on OMIM.
Dilated Cardiomyopathy and conduction defects v1.55 ACTA1 Rebecca Whittington commented on gene: ACTA1: OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11;OMIM#613424 Left ventricular noncompaction 4
Dilated Cardiomyopathy and conduction defects v1.55 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 OMIM#615377; Brugada syndrome 5 OMIM#612838; Cardiac conduction defect, nonspecific OMIM#612838; Epilepsy, generalized, with febrile seizures plus, type 1 OMIM#604233; Epileptic encephalopathy, early infantile, 52 OMIM#617350
Dilated Cardiomyopathy and conduction defects v1.55 PSEN2 Rebecca Whittington commented on gene: PSEN2: Alzheimer disease-4 OMIM#606889; Cardiomyopathy, dilated, 1V OMI#613697
Dilated Cardiomyopathy and conduction defects v1.55 PSEN1 Rebecca Whittington commented on gene: PSEN1: ?Acne inversa, familial, 3 OMIM#613737; Alzheimer disease, type 3 OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques OMIM# 607822; Cardiomyopathy, dilated, 1U OMIM#613694; Dementia, frontotemporal OMIM#600274; Pick disease OMIM#172700
Dilated Cardiomyopathy and conduction defects v1.55 GATAD1 Rebecca Whittington commented on gene: GATAD1: ?Cardiomyopathy, dilated, 2B OMIM#614672
Dilated Cardiomyopathy and conduction defects v1.55 TFR2 Rebecca Whittington commented on gene: TFR2: Hemochromatosis, type 3 OMIM#604250
Dilated Cardiomyopathy and conduction defects v1.55 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Hemochromatosis, type 4 OMIM#606069
Dilated Cardiomyopathy and conduction defects v1.55 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: Martsolf syndrome OMIM#212720; Warburg micro syndrome 2 OMIM#614225
Dilated Cardiomyopathy and conduction defects v1.55 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 IDH2 Rebecca Whittington commented on gene: IDH2: D-2-hydroxyglutaric aciduria 2 OMIM:613657
Dilated Cardiomyopathy and conduction defects v1.55 HFE2 Rebecca Whittington commented on gene: HFE2: Hemochromatosis, type 2A OMIM# 602390
Dilated Cardiomyopathy and conduction defects v1.55 HAMP Rebecca Whittington commented on gene: HAMP: Hemochromatosis, type 2B OMIM:613313
Dilated Cardiomyopathy and conduction defects v1.55 EPG5 Rebecca Whittington commented on gene: EPG5: Vici syndrome OMIM#242840
Catecholaminergic polymorphic VT v1.13 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Catecholaminergic polymorphic VT v1.13 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Catecholaminergic polymorphic VT v1.13 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Catecholaminergic polymorphic VT v1.13 TRDN Rebecca Whittington commented on gene: TRDN: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (OMIM 615441)
Catecholaminergic polymorphic VT v1.13 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Catecholaminergic polymorphic VT v1.13 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (OMIM 611938)
Catecholaminergic polymorphic VT v1.13 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Catecholaminergic polymorphic VT v1.13 TECRL Rebecca Whittington commented on gene: TECRL: Ventricular tachycardia, catecholaminergic polymorphic, 3 (OMIM 614021)
Catecholaminergic polymorphic VT v1.13 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Catecholaminergic polymorphic VT v1.13 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249). Overlapping phenotype with CPVT
Brugada syndrome and cardiac sodium channel disease v1.38 SCN2B Rebecca Whittington commented on gene: SCN2B: Atrial fibrillation, familial, 14 (OMIM 615378)
Brugada syndrome and cardiac sodium channel disease v1.38 RANGRF Rebecca Whittington commented on gene: RANGRF: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (OMIM 609040)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: Only possible links with Brugada (OMIM 601144)) and Cantu (OMIM 23985) -VUS only
Brugada syndrome and cardiac sodium channel disease v1.38 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Brugada syndrome and cardiac sodium channel disease v1.38 KCND3 Rebecca Whittington commented on gene: KCND3: Brugada syndrome 9 (OMIM 616399), Spinocerebellar ataxia 19 (OMIM 607346).
Brugada syndrome and cardiac sodium channel disease v1.38 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Brugada syndrome and cardiac sodium channel disease v1.38 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Brugada syndrome and cardiac sodium channel disease v1.38 ABCC9 Rebecca Whittington commented on gene: ABCC9: Atrial fibrillation, familial, 12 (OMIM 614050), Cardiomyopathy, dilated, 1O (OMIM 608569), Hypertrichotic osteochondrodysplasia (Cantu -OMIM 239850)
Brugada syndrome and cardiac sodium channel disease v1.38 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (OMIM 604559)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN3B Rebecca Whittington commented on gene: SCN3B: Atrial fibrillation, familial, 16 (OMIM 613120), Brugada syndrome 7 (OMIM 613120)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 (OMIM 615377), Brugada syndrome 5 (OMIM 612838), Cardiac conduction defect, nonspecific (OMIM 612838), Epilepsy, generalized, with febrile seizures plus, type 1 (OMIM 604233), Epileptic encephalopathy, early infantile, 52 (OMIM 617350 - AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN10A Rebecca Whittington commented on gene: SCN10A: Episodic pain syndrome, familial, 2 (OMIM 615551), PR Interval, variation in (OMIM %108980)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Brugada syndrome and cardiac sodium channel disease v1.38 HCN4 Rebecca Whittington commented on gene: HCN4: Brugada syndrome 8 (OMIM 613123), Sick sinus syndrome 2 (OMIM 163800)
Brugada syndrome and cardiac sodium channel disease v1.38 GPD1L Rebecca Whittington commented on gene: GPD1L: Brugada syndrome 2 (OMIM 611777)
Brugada syndrome and cardiac sodium channel disease v1.38 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 (OMIM 611876)
Brugada syndrome and cardiac sodium channel disease v1.38 SLMAP Rebecca Whittington commented on gene: SLMAP: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE5 Rebecca Whittington commented on gene: KCNE5: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 DLG1 Rebecca Whittington commented on gene: DLG1: No links to phenotypes on OMIM
Arrhythmogenic right ventricular cardiomyopathy v1.23 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others
Arrhythmogenic right ventricular cardiomyopathy v1.23 TGFB3 Rebecca Whittington commented on gene: TGFB3: Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)
Arrhythmogenic right ventricular cardiomyopathy v1.23 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830)
Arrhythmogenic right ventricular cardiomyopathy v1.23 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Arrhythmogenic right ventricular cardiomyopathy v1.23 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Cardiomyopathy, dilated, 1C, with or without LVNC (601493); Myopathy, myofibrillar, 4 (609452)
Arrhythmogenic right ventricular cardiomyopathy v1.23 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: Arrhythmogenic right ventricular dysplasia, familial, 13 (615616)
Arrhythmogenic right ventricular cardiomyopathy v1.23 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Arrhythmogenic right ventricular cardiomyopathy v1.23 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic right ventricular cardiomyopathy v1.23 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Arrhythmogenic right ventricular cardiomyopathy v1.23 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (609040)
Arrhythmogenic right ventricular cardiomyopathy v1.23 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 (607450) Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 (610476)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Arrhythmogenic right ventricular cardiomyopathy v1.23 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: No OMIM association; HGMD DMD/ARVC
Thoracic aortic aneurysm or dissection v1.89 FOXE3 Rebecca Whittington commented on gene: FOXE3: Kuang et al (J Clin Invest. 2016;126:948 PMID:26854927) describe several variants found in patients with TAAD. All variants associated with TAAD were located in the Forkhead domain. Segregation evidence for two of these variants but incomplete penetrance in that heterozygous male carriers are affected in this study but two heterozygous female carriers are unaffected. 8 family members affected with TAAD - all are male. Suggest FOXE3 mutations lead to reduced numbers of aortic smooth muscle cells and increased smooth muscle cell apoptosis in response to biomechanical stress.
Thoracic aortic aneurysm or dissection v1.89 CBS Rebecca Whittington commented on gene: CBS: Narayanan et al (Int J Physiol Pathophysiol Pharmacol 2013:32 PMID:23525608) - Homocystinuria may present with aortic aneurysm. Decreased expression of Collagens I and IV was observed in CBS+/- mice, analagous to changes seen in TAAD. Gaustadnes et al (HUMAN MUTATION 20:117 2002 PMID:12124992) describes 36 patients with homocystinuria and two variants in CBS. Dislocated lenses and Marfaniod features were reported in many of these patients, with aortic root dilation in one.
Thoracic aortic aneurysm or dissection v1.89 SMAD4 Rebecca Whittington commented on gene: SMAD4: Wain et al 2014 Genet Med 16:588 reviews clinical features of patients with SMAD4 variants and identifies enlarged aortic root in 9% (3 patients) and aortic dissection in one patient. References other publications that refer to a Marfan-like presentation.
Thoracic aortic aneurysm or dissection v1.89 SMAD2 Rebecca Whittington commented on gene: SMAD2: Schepers et al 2018 Hum Mutat 39:621 PMID:29392890 review variants in TGFB2/3 and SMAD2/3 in LDS, listing 6 likely pathogenic variants from this and previous studies. All missense variants to date
Thoracic aortic aneurysm or dissection v1.89 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: Callewaert et al 2008 Hum Mutat 29:150 PMID:17935213 describe bialleleic SLC2A10 variants in 16 affected individuals from 12 families; missense, truncating and large deletion; 5 mutations are recurrent. Heterozygous carriers have normal vasculature (abstract only); Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 also identify heterozygous SLC2A10 variants in Marfan cohort patients with arterial aneurysm/dissection but both variants are VUS.
Thoracic aortic aneurysm or dissection v1.89 SKI Rebecca Whittington commented on gene: SKI: Doyle et al 2012 Nat Genet 44:1249 PMID:23023332 characterise several missense variants which are mostly de-novo and cluster in the SMAD2/3 binding domain and Dachshund-homology domain essential for co-repressor recrutiment. Functional analysis showed loss of repression of TGF-B signalling cascades in patient fibroblasts heterozygous for variants.
Thoracic aortic aneurysm or dissection v1.89 PRKG1 Rebecca Whittington commented on gene: PRKG1: Two disease-causing variants reported to HGMD, both published by Overwater et al 2018 Hum Mutat 39:1143 PMID:29907982 one missense variant and one in-frame deletion of exon 3. No segregation for either variant, but the missense variant c.530G>A p.(Arg177Gln) has been reported elsewhere (Guo et al 2013 Am J Hum Genet 93:398 PMID:23910461) with segregation in 18 affected members of 4 families. Other variants are reported as ?DM on HGMD.
Thoracic aortic aneurysm or dissection v1.89 PLOD1 Rebecca Whittington commented on gene: PLOD1: Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)
Thoracic aortic aneurysm or dissection v1.89 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: Meester et al 2018 Hum Mutat 39:1246 PMID:29924900 Characterisation of variants in Adams-Oliver syndrome missense, nonsense splice and frameshift variants either novel to this publication or also published elsewhere. Multiple variants classified pathogenic/likely pathogenic using ACMG criteria and gnomAD population data using criteria which appear to be stringent. Southgate et al 2015 Circ Cardiovasc Genet 8:572 PMID:25963545 show segregation of NOTCH1 variants in 4 families and de-novo in 3 families and reduction of mRNA levels implying NMD. Both publications list cardiac phenotypes including BAV, co-arctation of the aorta, aortic regurgitation, aortic stenosis and VSD.
Thoracic aortic aneurysm or dissection v1.89 LOX Rebecca Whittington commented on gene: LOX: Guo et al 2016 Circ Res 118:928 PMID:26838787 LOX c.839G>T (p.Ser280Arg) segregates with FTAAD in a large family and other variants also show segregation in other families c.125G>A (p.Trp42*), c.604G>T (p.Gly202*), c.743C>T (p.Thr248Ile), c.800A>C (p.Gln267Pro), and c.1044T>A (p.Ser348Arg). Some (but not all) patients had additional Marfaniod features.
Thoracic aortic aneurysm or dissection v1.89 FLNA Rebecca Whittington commented on gene: FLNA: Chen et al 2018 Am J Med Genet A 176:337 PMID:29334594 examine patients with FLNA for cardiac features and found that 18% had thoracic aortic aneurysm/dilation and 57% had other cardiac abnormalites. This included two patients who died of aortic rupture at aortic diameters smaller than that reccomended for surgery in other aortopathies.
Thoracic aortic aneurysm or dissection v1.89 FBN2 Rebecca Whittington commented on gene: FBN2: Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 5 missense variants identified in Marfan/Marfan-like cohort: 3302A>G Asn1101Ser, 3793G>A Glu1265Lys, 4454A>G Asp1485Gly, 4657C>T Arg1553Cys, 5627G>C Cys1876Ser - all reported as VUS. Callewaert et al 2009 Hum Mutat 30:334 PMID:19006240 review FBN2 variants in contractural arachnodactyly and comment on involvement of aortopathy in phenotype of more recently described cases.
Thoracic aortic aneurysm or dissection v1.89 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: Letard et al 2018 Mol Syndromol 9:190 PMID:30140196 report a severe cutis laxa phenotype in a terminated pregnancy homozygous for an EFEMP2 nonsense variant c.639C>A (p.Cys213*) and review/list previously reported EFEMP2 variants. 0.00041% gnomAD (AR association).
Thoracic aortic aneurysm or dissection v1.89 ACTA2 Rebecca Whittington commented on gene: ACTA2: Recent review: Milewicz et al 2017 Arterioscl Thromb Vasc Biol 37:26 PMID:27879251
Thoracic aortic aneurysm or dissection v1.89 ZNF469 Rebecca Whittington commented on gene: ZNF469: Rohrbach et al 2013 Mol Genet Metab 109:289 PMID:23680354 describe two homozygous and one heterozygous patient - all variants are truncating. One patient has mitral valve prolapse and mild mitral regurgitation with a normal aortic root diameter. Variants also identified in 15 affected members of 10 families from a previously described cohort (Al-Hussain et al 2004 Am J Med Genet A 124A:28 PMID:14679583 - no mention of any cardiac phenotype).
Thoracic aortic aneurysm or dissection v1.89 TNXB Rebecca Whittington commented on gene: TNXB: Demirdos et al 2017 Clin Genet 91:411 PMID:27582382 17 patients of 11 families with autosomal recessive inheritance and childhood onset. 12 different mutations were detected, most of which are suspected to lead to NMD. Abstract only (no mention of cardiac phenotype in abstract). Several publications reviewed but no mention of cardiac phenotype.
Thoracic aortic aneurysm or dissection v1.89 MFAP5 Rebecca Whittington commented on gene: MFAP5: Barbier et al 2014 Am J Hum Genet 95:736 PMID:25434006 describe one missense variant c.62G>T (p.Trp21Leu) (MAF 0.0036% 10 alleles - quite high) and one nonsense variant (in final exon) c.472C>T (p.Arg158*) (MAF 0.0045% 11 alleles) in patients with syndromic/non-syndromic thoracic aortic aneurysm and dissections and no previous genetic diagnoisis. The nonsense variant segregates in 4 affected family members (also present in one unaffected 83 year-old and two family members with ambiguous phenotypes - incomplete penetrance?) and the missense variant in two affected family members (plus one younger family member with ambigous phenotype). Functional studies on aortic tissue (following surgery) from the missense variant showed disorganisation of the tunica media with loss of smooth muscle cells and showed enhanced TGF-b signaling in patient compared to healthy aorta. Schubert et al 2016 Am J Med Genet A 170A:1288 PMID:26854089 indentified an additional MFAP5 variant in a TAA cohort - patient also as an MYLK variant. Both missense and classified as VUS. MFAP5 variant is c.341G>A p.Arg114Gln (MAF ASJ 0.34% (56 alleles)) and has stronger supporting BI than the MYLK variant.
Thoracic aortic aneurysm or dissection v1.89 LTBP2 Rebecca Whittington commented on gene: LTBP2: Haji-Seyed-Javadi et al 2012 Hum Mutat 33:1182 PMID:22539340 identified homozygous c.3529G>A (p.Val1177Met) in a patient with Weill-Marchesani syndrome and c.1642C >T (p.Arg548*) in a patient with Marfan syndrome. They comment that p.Arg548* may be contributing to MFS-related phenotypes but is not responsible for the MFS in that patient (abstract only). Two other variants associated with MFS on HGMD but these are in unavailable conference abstract. Don't think sufficient evidence for this gene.
Thoracic aortic aneurysm or dissection v1.89 KCNN1 Rebecca Whittington commented on gene: KCNN1: Kim et al 2013 J Hum Genet 58:521 PMID:23677057 KCNN2 identified as a susceptiblity locus for coronary artery aneurysms in GWAS study
Thoracic aortic aneurysm or dissection v1.89 HNRNPK Rebecca Whittington commented on gene: HNRNPK: Au et al 2018 Eur J Hum Genet 26:1272 PMID:29904177 summarise a total of 9 patients with de novo LoF variants in NHRNPK, one with a de novo missense variant and 3 with de novo large deletions including HNRNPK in Au-Kline syndrome (abstract only)
Thoracic aortic aneurysm or dissection v1.89 FKBP14 Rebecca Whittington commented on gene: FKBP14: 6 variants described on ClinVar missense and truncating: Giunta et al 2018 Genet Med 20:42 PMID:28617417 describe 17 affected patients from 15 families all are homozygous for a total of 4 different pathogenic variants. A summary of this and a previous publication show that 6/20 patients have vascular abnormalities. This publication includes one patient with coronary artery dissection, one with a dilated aorta and one with borderline aortic root diameter. Baumann et al 2012 Am J Hum Genet 90:201 PMID:22265013 describe 6 patients from 5 families who are homozygous or compound heterozygous for FKBP14 variants and have some supporting functional work in FKBP14 deficient fibroblasts. One patient has aortic rupture.
Thoracic aortic aneurysm or dissection v1.89 FBLN5 Rebecca Whittington commented on gene: FBLN5: Callewaert et al 2013 Hum Mutat 34:111 PMID:22829427 describe one missense and one nonsense variant c.649T>C p.Cys217Arg; c.1171G>T p.Glu391X (both homozygous in consanguineous families) but do not report segregation or functional analysis for either variant, but both had significant family history; p.Cys217Arg has previously been reported elsewhere. Hu et al 2006 Hum Mol Genet 15:3379 PMID:17035250 carried out functional analysis on two missense variants including Cys217Arg and have shown fibulin-5 is absent in skin from a homozygous p.ser227Pro patient with resulting disorganisation of elastic fibres. Loeys et al 2002 11:2113 PMID:12189163 characterised the Ser224Pro variant in 4 homozygous affected members of a large consangineous family - segregation data.
Thoracic aortic aneurysm or dissection v1.89 COL2A1 Rebecca Whittington commented on gene: COL2A1: Hoornaert et al 2010 Eur J Hum Genet 18:872 PMID:20179744 review genotype/phenotype correlations in 100 Stickler syndrome patients with mutations in COL2A1 and make no mention of any cardiac phenotype, so this is unlikely to be a significant feature of this syndrome.
Thoracic aortic aneurysm or dissection v1.89 CHST14 Rebecca Whittington commented on gene: CHST14: Janecke et al 2016 Am J Med Genet A 170A:103 PMID:26373698 describe novel and recurrent missense and truncating variants in AR musculocontractural EDS. EDS phenotype with heart valve abnormalities in >50% of individuals and CHD occasionally present.
Thoracic aortic aneurysm or dissection v1.89 ALDH18A1 Rebecca Whittington commented on gene: ALDH18A1: Publications support role for this gene in a cutis laxa phenotype, e.g. Fischer-Zernsak et al (Am J Hum Genet 2015 97:483 PMID:26320891) which shows 3 different de novo variants affecting the same nucleotide in 8 families with a progeroid presentation of AD cutis laxa. No aortic involvement so insufficient to justify inclusion on panel unless overlapping features with relevant diseases is considered.
Thoracic aortic aneurysm or dissection v1.89 ABCC6 Rebecca Whittington commented on gene: ABCC6: Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.
Thoracic aortic aneurysm or dissection v1.89 PKD1 Rebecca Whittington commented on gene: PKD1: Silverio et al (Nephrology 2015 20:229 PMID:25476912) report on aortic disease in patients with ADPKD. Review of publications where both ADPKD and aortic disease were both present but no mention of genetic associations apart from mentioning that PKD1 and PKD2 cause ADPKD. Patients described in publication also had other marfaniod features. Qiu and Yu (J Cardiovasc Dis & Diag 2013 10.4172 PMID:not found) review the role of PKD1 and PKD2 in cardiovascular systems and describe association with mainly intracranial aneurysms - aortic aneurysm seems less frequent.
Thoracic aortic aneurysm or dissection v1.89 MED12 Rebecca Whittington commented on gene: MED12: Khan et al 2016 Clin Med Insights Case Rep 9:115 describes this as being an intellectual disability syndrome with Marfanoid features. Patient has variant c.3020A>G p.Asn1007Ser, which has been reported several times with functional studies. This patient does not have aortic involvement and review of literature suggests that intellectual disability and Marfaniod body habitus are usual features with this variant and not aortic.
Thoracic aortic aneurysm or dissection v1.89 FLCN Rebecca Whittington commented on gene: FLCN: Liu et al 2017 Orphanet J Rare dis 12:104 PMID:28558743 characterise several FLCN variants in a chinese Birt-Hogg-Dube cohort and comment on comparision with mutations found in Western cohorts, but do not mention any cardiac involvement
Thoracic aortic aneurysm or dissection v1.89 COL1A2 Rebecca Whittington commented on gene: COL1A2: Schwarze et al 2004 Am J Hum Genet 74:917 PMID:15077201 identified truncating variants - splice variants affecting +/-1 position (compound heterozygous) and nonsense (homozygous) that lead to disease through NMD.
Thoracic aortic aneurysm or dissection v1.89 COL1A1 Rebecca Whittington commented on gene: COL1A1: Weerakkody et al 2016 Genet Med 18:1119 PMID:27011056 is one of several publications identifying variants in COL1A1 in EDS patients. One frameshift and two missense (affecting glycine in the G-X-Y collagen triple-helix motif) variants are described: c.1265delG: p.Gly422AlafsX119; c.643G>A: p.Gly215Ser; c.662G>C: p.Gly221Ala. None of these have any gnomAD frequency.
Thoracic aortic aneurysm or dissection v1.89 BGN Rebecca Whittington commented on gene: BGN: Meester et al 2017 Genet Med 19:386 PMID:27632686 report one nonsense, two missense and two large deletions affecting multiple exons of BGN but no additional genes. Nonsense variant c.5G>A, p.Trp2* with no gnomAD freq, seg in two affected family members and 2 ClinVar submissions as pathogenic. Missense variants c.908A>C, p.Gln303Pro and c.238G>A,p.Gly80Ser both with no gnomAD freq and 2 ClinVar submissions as pathogenic.
Thoracic aortic aneurysm or dissection v1.89 ABL1 Rebecca Whittington commented on gene: ABL1: Wang et al 2017 Nat Genet 49:613 PMID 28288113 describe two variants: c.734A>G (p.Tyr245Cys) found de novo in 5 individuals from 3 families (segregates with disease in two affected individuals from each of 2 families) and c.1066G>A (p.Ala356Thr) found de novo in a single family. Both variants are well conserved and affect the kinase domain. Neither have any gnomAD frequency and both are reported as pathogenic by more than one source on ClinVar.
Short QT syndrome v1.9 SCN5A Rebecca Whittington commented on gene: SCN5A: Does not appear to be associated with SQT on OMIM and HGMD
Short QT syndrome v1.9 CACNB2 Rebecca Whittington commented on gene: CACNB2: 1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503
Short QT syndrome v1.9 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 1 variant associated with SQT on HGMD. Also reported in controls 22840528. Some functional characterisation 29016797
Short QT syndrome v1.9 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: 1 variant associated with SQT on HGMD
Short QT syndrome v1.9 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Not associated with SQT
Short QT syndrome v1.9 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: 2 reported variants on HGMD 15159330 , with functional studies 26168993, 28814790
Short QT syndrome v1.9 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: 1 report associated with LQT. 28609477
Short QT syndrome v1.9 KCNH2 Rebecca Whittington commented on gene: KCNH2: Multiple DM variants on HGMD with functional studies.
Short QT syndrome v1.9 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Not associated with SQT
Progressive cardiac conduction disease v0.17 ANK2 Rebecca Whittington commented on gene: ANK2: Can be associated with Bradycardia. 27785597 - 1 report on HGMD
Progressive cardiac conduction disease v0.17 GJA5 Rebecca Whittington commented on gene: GJA5: Pubmed: 25426816. Connexin. Involved in the normal propagation of the electrical impulse in the specialized cardiac conduction system. 1 family with variant and familial heart block.
Progressive cardiac conduction disease v0.17 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX3 Rebecca Whittington commented on gene: TBX3: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX5 Rebecca Whittington commented on gene: TBX5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 EMD Rebecca Whittington commented on gene: EMD: As with LMNA - reports of individuals with a EMD variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 DES Rebecca Whittington commented on gene: DES: As with LMNA - reports of individuals with a DES variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 LMNA Rebecca Whittington commented on gene: LMNA: PMID: 27884249; 23912926: reports of individuals with a LMNA variant who had a conduction defect as an isolated finding. Cardiomyopathy phenotype developed late in some (few) relatives as a later feature.
Progressive cardiac conduction disease v0.17 HCN4 Rebecca Whittington commented on gene: HCN4: Atrial fibrillation, Bradycardia & left ventricular noncompaction cardiomyopathy; Sick Sinus Syndrome on HGMD, numerous reports. Pubmed - 28104484
Progressive cardiac conduction disease v0.17 TRPM4 Rebecca Whittington commented on gene: TRPM4: In cellular expression systems, mutant TRPM4 channels produce a larger current than wt (GoF). 4 families identified. Hypothesised GoF mutant channels lead to cell membrane depolarisation in the conduction system, therefore reducing number of Na channels and resulting in conduction abnormality. Functional experiments expressing these three mutant variants of TRPM4 suggested a similar gain-of-function phenomenon related to altered deSUMOylation 21887725. 20562447
Progressive cardiac conduction disease v0.17 SCN5A Rebecca Whittington commented on gene: SCN5A: Pubmed: 25426816. Main gene involved in PCCD. at least 16 distinct mutations in SCN5A have been found to cause conduction alterations and block in patients and their families. The vast majority of these mutations, when functionally characterized, reduced the sodium current, thereby leading to a loss of function consistent with the slowed cardiac conduction observed in patients.
Progressive cardiac conduction disease v0.17 SCN1B Rebecca Whittington commented on gene: SCN1B: Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Progressive cardiac conduction disease v0.17 KCNK17 Rebecca Whittington commented on gene: KCNK17: PCCD patient with idiopathic ventricular fibrillation, whole exome sequencing identified a missense mutation G88R, in the gene KCNK17, which codes for the potassium channel TASK-4. This mutation led to a gain of function of the TASK-4-mediated current and may, similarly to the gain-of-function mechanisms proposed for TRPM4 24972929
Long QT syndrome v1.25 SCN4B Rebecca Whittington commented on gene: SCN4B: Looks to be evidence in the Medeiros-Domingo paper (PMID 17592081) of a variant that tracked in a family, not on GnomAD and also functional evidence. PMID: 23631430. PMID: 23604097.
Long QT syndrome v1.25 RYR2 Rebecca Whittington commented on gene: RYR2: Gene associated With CPVT mainly but reported with LQT cases (PMID 26132555). PMID: 21126784. http://www.avidscience.com/wp-content/uploads/2017/07/update-on-the-genetic-basis-of-long-qt-syndrome.pdf. https://www.ahajournals.org/doi/abs/10.1161/circ.134.suppl_1.20155.
Long QT syndrome v1.25 NOS1AP Rebecca Whittington commented on gene: NOS1AP: Not enough evidence for this gene. PMID:26132555. PMID: 20538168.
Long QT syndrome v1.25 KCNE3 Rebecca Whittington commented on gene: KCNE3: No evidence for LQT - ? some evidence assoc with Brugada. PMID:19122847. PMID: 22987075. PMID 19306396.
Long QT syndrome v1.25 CAV3 Rebecca Whittington commented on gene: CAV3: Not a definitive link for this gene and LQT. May need Clinical input to rule out. PMID:26132555. PMID:17275750. PMID: 24021552. PMID: 17060380.
Long QT syndrome v1.25 CALM1 Rebecca Whittington commented on gene: CALM1: Evidence associated with CPVT primarily. Reported de novo variant in 6 year old boy (PMID: 28491771) with LQT but phenotype not clear (need clinical input). Other paper with strong de novo CALM1 variant in child with LQT and cardiac arrest (PMID:27374306). PMID 23388215.
Long QT syndrome v1.25 AKAP9 Rebecca Whittington commented on gene: AKAP9: No definitive evidence. Although listed on HGMD as associated with LQT - the evidence is not there to back it up. PMID:23174487. PMID:26132555. PMID: 249981977.
Long QT syndrome v1.25 SNTA1 Rebecca Whittington commented on gene: SNTA1: Rare LQT susceptibility gene - see Ueda paper for ? functional evidence. PMID:19684871. PMID:18591664. 23376825
Long QT syndrome v1.25 SCN5A Rebecca Whittington commented on gene: SCN5A: Established LQT gene - numerous literature evidence. PMID:23098067. PMID: 19716085. PMID: 15840176. https://www.sciencedirect.com/science/article/pii/S097262921730178X.
Long QT syndrome v1.25 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915.
Long QT syndrome v1.25 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Literature evidence includes a large Chinese Pedigree. PMID:20560207. PMID:25322277. PMID: 24574546.
Long QT syndrome v1.25 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.
Long QT syndrome v1.25 KCNH2 Rebecca Whittington commented on gene: KCNH2: Literature/functional evidence for this established LQT gene. PMID:28749435. PMID:19716085. PMID: 22429796.
Long QT syndrome v1.25 KCNE2 Rebecca Whittington commented on gene: KCNE2: Literature/functional evidence for this gene. PMID:19716085. PMID:27465075. PMID:20042375.
Long QT syndrome v1.25 KCNE1 Rebecca Whittington commented on gene: KCNE1: Lots of literature evidence for this gene. Possible milder phenotype. PMID:19716085. PMID: 17341399. PMID: 14499862.
Long QT syndrome v1.25 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Literature and functional evidence for this gene. PMID: 25633834. PMID:30023270. PMID:27390944. PMID 24728418.
Long QT syndrome v1.25 ANK2 Rebecca Whittington commented on gene: ANK2: Does not look like classic LQT, patients that have variants sometime asymptomatic. Some variants reported are too frequent.PMID:26132555. PMID: 16253912. PMID: 17242276. PMID:15178757.
Long QT syndrome v1.25 CALM3 Rebecca Whittington commented on gene: CALM3: Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456
Long QT syndrome v1.25 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see PMID: 24917665. PMID:26969752. PMID 23388215.
Long QT syndrome v1.25 ALG10 Rebecca Whittington commented on gene: ALG10: No evidence for this gene to include. PMID:15280551
Hypertrophic cardiomyopathy v1.52 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.
Hypertrophic cardiomyopathy v1.52 TTR Rebecca Whittington commented on gene: TTR: 29567486 /28369730: HCM phenocopy. OMIM 105210 - hereditary, transthyretin-related Amyloidosis: cardiomyopathy associated with phenotype. Few DM variants on HGMD associated with cardiomyopathy, HCM only are VUS. 28635949: specific cardiac variants in this gene.
Hypertrophic cardiomyopathy v1.52 FLNC Rebecca Whittington commented on gene: FLNC: 28369730: Strong evidence, but relatively high frequency of rare variants in population (3.2%). Further characterisation required. 28356264 Gomez 2016 (Circ Cardiovasc Genet. 2017;10:e001584. DOI: 10.1161/CIRCGENETICS.116.001584.) : 6 LP variants in 7 patients. Classification based on ACMG and segregation.
Hypertrophic cardiomyopathy v1.52 ACTN2 Rebecca Whittington commented on gene: ACTN2: Reported to segregate in relatively large pedigrees, but LOD score <3. Moderate evidence: 28082330. Classified as a core HCM gene: 29567486
Hypertrophic cardiomyopathy v1.52 TPM1 Rebecca Whittington commented on gene: TPM1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNT2 Rebecca Whittington commented on gene: TNNT2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNI3 Rebecca Whittington commented on gene: TNNI3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNC1 Rebecca Whittington commented on gene: TNNC1: Troponin complex. Multiple reports to HGMD, a lot of functional evidence but does not appear to be any segregation. Classified as a main HCM causing gene in: 28369730. Weak evidence for primary pathogenic role: 28082330 - ?modifier. Minor HCM gene - 28790153. Termed core gene: 29567486
Hypertrophic cardiomyopathy v1.52 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 PLN Rebecca Whittington commented on gene: PLN: Rare HCM gene - strong evidence 28082330 for primary role. Only 3 missense variants on HGMD as LP does not appear to be segregation (27532257; 26573135). 2 regulatory variants - 16829191 with some functional work.
Hypertrophic cardiomyopathy v1.52 MYL3 Rebecca Whittington commented on gene: MYL3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYL2 Rebecca Whittington commented on gene: MYL2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYH7 Rebecca Whittington commented on gene: MYH7: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 LAMP2 Rebecca Whittington commented on gene: LAMP2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 FHL1 Rebecca Whittington commented on gene: FHL1: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 CSRP3 Rebecca Whittington commented on gene: CSRP3: Rare HCM gene. Strong evidence: 28082330. Well established gene
Hypertrophic cardiomyopathy v1.52 ACTC1 Rebecca Whittington commented on gene: ACTC1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TRIM63 Rebecca Whittington commented on gene: TRIM63: Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.
Hypertrophic cardiomyopathy v1.52 TMEM70 Rebecca Whittington commented on gene: TMEM70: DOI: 10.1016/j.ymgme.2014.01.001 - HCM key feature of AR disease.
Hypertrophic cardiomyopathy v1.52 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Four DM variants on HGMD with two references: Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 and Osio (2007) Circ Res 100: 766 PubMed: 17347475. Mouse model generated using a couple of missesnse variants detected and suggest involvement in HCM: Ruggiero (2013) Cardiovasc Res 97: 44 PubMed: 22987565. May be a rare cause of disease. 1 of these variants has been downgraded to a VUS given MAF. Insuffient evidence, no segregation.
Hypertrophic cardiomyopathy v1.52 MYOM1 Rebecca Whittington commented on gene: MYOM1: HGMD: 8 DM variants listed all but one with HCM (the 8th variant assoc with DCM) Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 lists some of these variants. All missense. Bottillo (2016) Gene 577: 227 PubMed: 26656175 .
Hypertrophic cardiomyopathy v1.52 VCL Rebecca Whittington commented on gene: VCL: Reports on HGMD are VUS (2 downgraded)
Hypertrophic cardiomyopathy v1.52 TTN Rebecca Whittington commented on gene: TTN: Limited evidence for HCM
Hypertrophic cardiomyopathy v1.52 TSFM Rebecca Whittington commented on gene: TSFM: AR Multisystemic disorder which a feature can be HCM. https://omim.org/clinicalSynopsis/610505
Hypertrophic cardiomyopathy v1.52 TCAP Rebecca Whittington commented on gene: TCAP: 6 cases on HGMD, only 2 DM reported 15582318. 1 of these has since been reclassified as LB. 28518168
Hypertrophic cardiomyopathy v1.52 SOS1 Rebecca Whittington commented on gene: SOS1: Rasopathy gene. https://omim.org/clinicalSynopsis/610733. HCM and stenosis can be a key feature as shown in OMIM.
Hypertrophic cardiomyopathy v1.52 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: AR mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SHOC2 Rebecca Whittington commented on gene: SHOC2: Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721.
Hypertrophic cardiomyopathy v1.52 SCO2 Rebecca Whittington commented on gene: SCO2: BGL - No variants detected: https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Hypertrophic cardiomyopathy v1.52 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also. No evidence for HCM
Hypertrophic cardiomyopathy v1.52 PTPN11 Rebecca Whittington commented on gene: PTPN11: Some patients may have HCM
Hypertrophic cardiomyopathy v1.52 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence. Does not appear to be associated with HCM.
Hypertrophic cardiomyopathy v1.52 NRAS Rebecca Whittington commented on gene: NRAS: Rasopathy gene. In HGMD mainly associated with Noonans/Costello syndrome
Hypertrophic cardiomyopathy v1.52 MYO6 Rebecca Whittington commented on gene: MYO6: 1 report of HCM with deafness. 15060111
Hypertrophic cardiomyopathy v1.52 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No evidence
Hypertrophic cardiomyopathy v1.52 MRPL3 Rebecca Whittington commented on gene: MRPL3: HGMD - 1 DM variant assoc with AR HCM. Only one paper: Galmiche (2011) Hum Mutat 32: 1225 PubMed: 21786366 .
Hypertrophic cardiomyopathy v1.52 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: 30 DM variants on HGMD - mainly associated with cardio-facio-cutaneous syndrome.
Hypertrophic cardiomyopathy v1.52 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Rasopathy gene. Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello syndrome.
Hypertrophic cardiomyopathy v1.52 LMNA Rebecca Whittington commented on gene: LMNA: 1 report on HGMD associated with HCM, other cardiomyopathy phenotypes described
Hypertrophic cardiomyopathy v1.52 LDB3 Rebecca Whittington commented on gene: LDB3: 1 report on HGMD associated with HCM
Hypertrophic cardiomyopathy v1.52 KLF10 Rebecca Whittington commented on gene: KLF10: 6 DM variants on HGMD reported in , but 3 reduced pathogenicity following subsequent review. (pubmed 22234868, 30165862, 23299917)
Hypertrophic cardiomyopathy v1.52 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Arrhythmia gene
Hypertrophic cardiomyopathy v1.52 HRAS Rebecca Whittington commented on gene: HRAS: Listed in many panels. OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own.
Hypertrophic cardiomyopathy v1.52 GUSB Rebecca Whittington commented on gene: GUSB: Patients with cardiac arrest and HCM described on OMIM, but not a key feature or presenting feature.
Hypertrophic cardiomyopathy v1.52 GLB1 Rebecca Whittington commented on gene: GLB1: OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few of the pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key feature
Hypertrophic cardiomyopathy v1.52 GAA Rebecca Whittington commented on gene: GAA: Cardiomyopathy is a feature in the infantile forms of Pompe disease :Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.
Hypertrophic cardiomyopathy v1.52 FXN Rebecca Whittington commented on gene: FXN: 1 report associated
Hypertrophic cardiomyopathy v1.52 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficency has HCM.
Hypertrophic cardiomyopathy v1.52 CRYAB Rebecca Whittington commented on gene: CRYAB: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Hypertrophic cardiomyopathy v1.52 COA5 Rebecca Whittington commented on gene: COA5: AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908. Homozygous varaints associated with neonatal cardiomyopathy.
Hypertrophic cardiomyopathy v1.52 CAV3 Rebecca Whittington commented on gene: CAV3: OMIM association with LQT9. Limited evidence for disease association. HGMD reports in association with several disorders including 2 DM variants in HCM (26656175,14672715) . Main association rippling muscle disease and LGMD. A few associated with LQT.
Hypertrophic cardiomyopathy v1.52 CASQ2 Rebecca Whittington commented on gene: CASQ2: ON HGMD assoc with CPVT and ventricular tachycardia (Good evidence).
Hypertrophic cardiomyopathy v1.52 CALR3 Rebecca Whittington commented on gene: CALR3: HGMD: 2 x DM variants associated with HCM; Chiu (2007) J Mol Cell Cardiol 43: 337 PubMed: 17655857 - both variants reported here are reported in ESP population.
Hypertrophic cardiomyopathy v1.52 CACNA1C Rebecca Whittington commented on gene: CACNA1C: HGMD - 1 variant described with HCM Pubmed: 24183960
Hypertrophic cardiomyopathy v1.52 BRAF Rebecca Whittington commented on gene: BRAF: Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.
Hypertrophic cardiomyopathy v1.52 ATP5E Rebecca Whittington commented on gene: ATP5E: Not listed on HGMD, OMIM: 1 nonsense variant and associated with mitochondrial disease, patient has HCM: Mayr Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.
Hypertrophic cardiomyopathy v1.52 AGL Rebecca Whittington commented on gene: AGL: Assoc with AR glycogen storage disease - cardiomyopathy can be a key feature and age of onset is broad range - can be undefined myopathy: https://omim.org/clinicalSynopsis/232400.
Hypertrophic cardiomyopathy v1.52 ACADVL Rebecca Whittington commented on gene: ACADVL: BGL: 5 variants detected all heterozygous. 2 LP or P. Just for paediatric panel due to BioMet guidelines. OMIM: can be key feature associated with cardiomyopathy and sudden death - infantile.
Hypertrophic cardiomyopathy v1.52 NEXN Rebecca Whittington commented on gene: NEXN: Functional data only 28369730. Included as a minor HCM gene in 28790153. 2 pathogenic variants reported to HGMD associated with HCM: 20970104 - 1 MAF 0.6%, other present in 2 alleles. Lots of VUS.
Hypertrophic cardiomyopathy v1.52 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. MYPN mutations cause either a cardiac (AD) or a congenital skeletal muscle disorder (AR) through different modes of inheritance pUBMED 28220527. Functional evidence only - 28082330, 28369730
Hypertrophic cardiomyopathy v1.52 MYLK2 Rebecca Whittington commented on gene: MYLK2: HGMD: 4 variants listed as DM all associated with HCM. 1 x nonsense, but seen with other variants in a sudden death case: Suktitipat (2017) PLoS One 12: e0180056 PubMed: 28704380. Functional evidence only according to: 10.1093/eurheartj/ehw603. Limited segregation evidence
Hypertrophic cardiomyopathy v1.52 JPH2 Rebecca Whittington commented on gene: JPH2: Weak evidence for primary role in pathogenicity: 28082330. Insufficient evidence, no supporting segregation, despite functional assays. PMID: 28393127 - a novel variant identified in a proband with significant basal septal hypertrophy. Neither parents were genotyped. his mutation was absent in 159,358 reference alleles. Variants in in MYH7, MYBPC3, MYL2, MYL3, TTNT2, TTNI3, TNNC1, TPM1, ACTC, PRKAG2, GLA, and LAMP2 genes, were excluded in this patient. Mice with this variant exhibit similar basal hypertrophy using a newly developed echo imaging plane, and this was confirmed using cardiac MRI. Histological analysis demonstrated cardiomyocyte hypertrophy and disarray consistent with HCM. 3 additional missense variants reported in 3 cases in PMID: 17509612 (2007), however another missense variant Gly550Ser in this gene has been reclassified as unknown pathogenic significance, due to presence in allele frequency databases. HGMD: 8 DM variants - 3 DCM rest HCM. Functional studies shown an effect in JPH2 but no variants with evidence of segregation. 10.1093/eurheartj/ehw603
Hypertrophic cardiomyopathy v1.52 DES Rebecca Whittington commented on gene: DES: 3 DM variants associated with HCM on HGMD. Pubmed: 29167554, 29907873 with mixed phenotypes. Functional characterisation in 1 variant 21262226, 17221859
Hypertrophic cardiomyopathy v1.52 ACTA1 Rebecca Whittington commented on gene: ACTA1: Tadokoro 2018 (Journal of the Neurological Sciences 393 (2018) 142144: 1) patient but presented case series of 7 patients presenting with myopathy and 2 had DCM five others had HCM, all childhood onset so needs to be on paediatric panel. 15520409 (2004) shows segregation of variants with disease in two multi generational families.
Hypertrophic cardiomyopathy v1.52 MYH6 Rebecca Whittington commented on gene: MYH6: No - Cardiomyopathy, dilated, 1EE OMIM 613252 . Inheritance unknown (OMIM) Weak evidence according to 28082330. Not listed in 28369730
Dilated Cardiomyopathy and conduction defects v1.54 XK Rebecca Whittington commented on gene: XK: https://omim.org/clinicalSynopsis/300842 - 60% of patients have DCM and AF. R Many pathogenic variants reported on HGMD. Appears that DCM may be a key feature but may not be a presenting feature
Dilated Cardiomyopathy and conduction defects v1.54 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: Sibbing Eur Heart J.2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. ?Mouse model and three DCM patients with missense variants. HGMD 3 variants assoc with DCM, including Sibbing and Dal Ferro. some freq in GnomAD for these variants.
Dilated Cardiomyopathy and conduction defects v1.54 TTR Rebecca Whittington commented on gene: TTR: Usually more LVH asssociated with late onset amyeloidosis but in our patient the TTN variant may have modifying the phenotype. Many pathogenic variants detected and some specifically with cardiac features: Iorio et al (2017) Eur J Hum Genet 25:1055.
Dilated Cardiomyopathy and conduction defects v1.54 TMPO Rebecca Whittington commented on gene: TMPO: Taylor 2005 Hum Mutat 26(6), 566574, 2005.1 variant but high freq and adult onset.
Dilated Cardiomyopathy and conduction defects v1.54 TMEM43 Rebecca Whittington commented on gene: TMEM43: HGMD: five variants three ?DM through Walsh 2017 and 2 DM through Dal Ferro 2017. Not strong evidence
Dilated Cardiomyopathy and conduction defects v1.54 SYNE2 Rebecca Whittington commented on gene: SYNE2: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380.
Dilated Cardiomyopathy and conduction defects v1.54 SYNE1 Rebecca Whittington commented on gene: SYNE1: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380. 3 missense variants detected in SYNE1 assoc with DCM, functional studies undertaken but no family studies: Zhou Human Molecular Genetics, 2017, Vol. 26, No. 12.
Dilated Cardiomyopathy and conduction defects v1.54 RYR2 Rebecca Whittington commented on gene: RYR2: HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Variants mainly assoc with HCM. HGMD: 3 variants assoc with DCM: 1 x Lu 2017 (Lu et al. J Transl Med (2018) 16:241) - VUS using ACMG. 2 x on LMM data(Walsh 2017) one has probably too high freq and also reported in LVNC, other variant no freq.
Dilated Cardiomyopathy and conduction defects v1.54 PRDM16 Rebecca Whittington commented on gene: PRDM16: HGMD - DCM, LVNC and sudden death. Only 7 /21 variants classed as DM on HGMD, rare cause? 5 truncating variants on HGMD assoc with DCM or LVNC eg Meng (2017) ( JAMA Pediatr 171: 173438 PubMed: 28973083) de novo nonsense in a child in intensive care not clear if patient has DCM. Arndt (2013) Am J Hum Genet 93, 67) Seven variants detected four have freq, the two truncating variants look like they are pathogenic along with one missense but all are assoc with LVNC rather than DCM. This evidence was refuted by de Leeuw (2014) Am J Hum Genet 94: 153 PubMed: 24387995.
Dilated Cardiomyopathy and conduction defects v1.54 PKP2 Rebecca Whittington commented on gene: PKP2: HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.
Dilated Cardiomyopathy and conduction defects v1.54 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence: Pashmforoush M et al (2001). Adult mice deficient in actin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7(5):591-7. HGMD - 2 truncating variants detected with DCM, Haas 2015 - listed as a candidate variant with no other evidence and Arola 2017 ( Arola (2007) Mol Genet Metab 90, 435): 1 patient with a frameshift variant - patient presented in pregnancy and died a year later, mother may have had AVB but no family studies reported - this variant has 9 alleles listed on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 NEBL Rebecca Whittington commented on gene: NEBL: Literature: Purevjav J Am Coll Cardiol. 2010 October 26; 56(18): 14931502 - a number of variants assoc with DCM and mouse models but high frequency in GnomAD. Perrot 2016: Arch Med Sci 2016; 12, 2: 263278, six variants reported and expanded phenotype to HCM and LVNC. Three have frequencies higher than expected for disease causing variant. HGMD: Nine variants assoc DCM, only 3 classed as DM - two of these have high freq and we have down graded to LB. No segregation as far as I can see.
Dilated Cardiomyopathy and conduction defects v1.54 MYL3 Rebecca Whittington commented on gene: MYL3: 26 variants listed as DM on HGMD, 1 assoc with DCM: Zhao 2015 Int J Mol Med. 2015 Dec;36(6):1479-86. doi: 10.3892/ijmm.2015.2361 - 1 variant assoc with DCM no freq but weak BI. Epub 2015 Oct 7.
Dilated Cardiomyopathy and conduction defects v1.54 MYL2 Rebecca Whittington commented on gene: MYL2: 48 DM variants listed on HGMD -including in Walsh 2017. Also Alfares (2015) Genet Med 17: 880 PubMed: 25611685. Mainly HCM. 2x DCM reported from Walsh as VUS.GOOGLE: Huang 2015 (FEBS J. 2015 June ; 282(12): 23792393. doi:10.1111/febs.13286.) identified a variant tracking with DCM in 3 family members and functional studies support pathogenicity, no freq on GnomAD and a follow up paper by Yang PNAS March 6, 2018 115 (10) E2338-E2347 undertook functional studies of this variant in mice. Weterman 2013 Brain 2013: 136; 282293- suggest a homozygous MYL2 was found tracking with disease with muscle fibre disease and DCM - also an Italian patient with similar features was compound het for variants in this gene. Summary: Not so much evidence in HGMD but google - 1 paper with a variant tracking with disease with functional studies and a follow up paper with a mouse model. then some evidence of AR muscle and DCM phenotype in two papers.
Dilated Cardiomyopathy and conduction defects v1.54 LAMP2 Rebecca Whittington commented on gene: LAMP2: 90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257
Dilated Cardiomyopathy and conduction defects v1.54 LAMA4 Rebecca Whittington commented on gene: LAMA4: HGMD: 11 variants assoc with DCM on HGMD only 3 classed as pathogenic - two in Knoll 2007, both have some functional studies. Six variants from Walsh 2017 as VUS. 1 from Marston 2015 assoc with DCM but no further info.
Dilated Cardiomyopathy and conduction defects v1.54 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Five variants assoc with DCM on HGMD they all have some freq - though 4 are <4 alleles on GnomAD, references include Walsh 2017 and Haas 2015 . Lots of evidence on HGMDPro for ARVC.
Dilated Cardiomyopathy and conduction defects v1.54 ILK Rebecca Whittington commented on gene: ILK: HGMD: 2 DM variants in this gene (1 x DCM and 1 x HCM) and 5 associated with DCM overall - 1 x DCM Knoll 2007 - some functional studies to support pathogenicity [1 xHCM. Bottillo (2016) Gene 577: 227 PubMed: 26656175]. Dalin 2017 reports four missense variants assoc with DCM (3 by Haas 2015 as VUS - one also reported in Knoll - has no GnomAD freq). One patient had a previously reported MYBPC3 variant and one had a TTN frameshift variant.
Dilated Cardiomyopathy and conduction defects v1.54 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy
Dilated Cardiomyopathy and conduction defects v1.54 FLNC Rebecca Whittington commented on gene: FLNC: Literature: Begay 2016 2 Italian families with segregation of the same splice variant and a US family with a different splice variant segregating with disease. Western blotting supported evidence of pathogenicity.
Dilated Cardiomyopathy and conduction defects v1.54 FHL2 Rebecca Whittington commented on gene: FHL2: HGMD Only two variants assoc with DCM - both know freq but classed as 3 in Walsh 2017 and Dal Ferro 2017. Also only 2 DM variants assoc with HCM - but some functional studies show downregulation of this gene in HCM: Friedrich (2014) Basic Res Cardiol 109: 451 PubMed: 25358972 FHL2 expression and variants in hypertrophic cardiomyopathy.
Dilated Cardiomyopathy and conduction defects v1.54 FHL1 Rebecca Whittington commented on gene: FHL1: Core HCM gene
Dilated Cardiomyopathy and conduction defects v1.54 EMD Rebecca Whittington commented on gene: EMD: Missense variants in this gene have been detected in patients with DCM, cardiac conduction defects (including heart block) and later onset muscular dystrophy (Ellis et al, 1999) or DCM alone. Mook et al, 2013 - 1 variant VUS Mook ORF, et al. J Med Genet 2013;50:614626. doi:10.1136/jmedgenet-2012-101231. Cuenca et al, 2016 describes a founder EMD mutation in 13 unrelated families with DCM in Teneriefe, the variant has no pop freq on GnomAD. Usually assoc with Emery muscular dystrophy. HGMD: all DM entries assoc with EMD.
Dilated Cardiomyopathy and conduction defects v1.54 DSG2 Rebecca Whittington commented on gene: DSG2: HGMD: 2 variants classed DM with DCM: Garcia-Pavia (2011) Heart 97: 1744 - Four variants in patients with DCM only one classed as pathogenic as frameshift. Walsh 2017 (Walsh (2017) Genet Med 19: 192) - 1 variant VUS -4 which was classed as pathogenic by Elliot 2010 ( Elliott (2010) Circ Cardiovasc Genet 3: 314 ) and NG 2013 (Ng (2013) Circ Cardiovasc Genet 6: 337) but has a freq of 0.0079%. No family studies but two variants identified in patients with a second variant and FH.
Dilated Cardiomyopathy and conduction defects v1.54 DSC2 Rebecca Whittington commented on gene: DSC2: Literature: Dal Ferro 2017 - 1 LP vairant assoc with DCM. Some suggestion that can be associated with DCM but not strong.Though ARVC may present in LV or biventricular and may appear to be DCM. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 DOLK Rebecca Whittington commented on gene: DOLK: AR DCM is a key feature from birth:he second family reported by Kranz et al. (2007) included 2 affected sibs born of consanguineous Turkish parents. In the first sib, ichthyosis congenita with inflammation of the skin was present at birth. At age 5 months, progressive hair loss was nearly complete, with sparse eyelashes and eyebrows. Dilated cardiomyopathy was present from birth and persisted throughout life. Severe muscular hypotonia was present and death occurred at home at age 7 months, most likely from aspiration. A sister showed muscular hypotonia at birth, and progressive dilated cardiomyopathy developed shortly after birth. Lefeber et al (2011) PlosGenet 7(12):e1002427.Infantile to late childhood onset. But teens can be affected - see Lefeber 2011 - case series which segregates with disease - 1 teenage and other cases 9/10 year olds. One case in the lab of a teenager with DCM and two variants in this gene.
Dilated Cardiomyopathy and conduction defects v1.54 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: Seems rare but in HGMD all variants DCM and truncating and in AR DCM: Ucar (2017) JIMD Rep 35: 39 PubMed: 27928778 . May be a rare candiate gene but paediatric onset
Dilated Cardiomyopathy and conduction defects v1.54 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy gene - a few variants found in the lab but main cause of disease is expansion. HGMD - no variant listed with cardiomyopathy
Dilated Cardiomyopathy and conduction defects v1.54 CTF1 Rebecca Whittington commented on gene: CTF1: Only one DM report on HGMD: Erdmann (2000) Hum Mutat 16: 448 PubMed: 11058912 with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171 - variant where func studies undertaken and seen in HCM and DCM has 294 alleles on Gnomad so suggest this is not a pathogenic variant. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. Haas 2015 Four variants listed assoc with DCM but three have quite high freq and the fourth is a nonsense with no freq. Summary: Quite a number of variants reported associated with DCM, just from two studies only 1/5 variants has no freq the other may be too high to be disease causing. Note in Purevjav struggling to tie up c. and p. nomenclature in Alamut in NM_032578.2 as quoted in paper.
Dilated Cardiomyopathy and conduction defects v1.54 CRYAB Rebecca Whittington commented on gene: CRYAB: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Dilated Cardiomyopathy and conduction defects v1.54 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 8. HGMD: 9 DM entries with DCM or HCM (1 with a CHD phenotype). Literature from HGMD: Dalin 2017: missense variants assoc with DCM. 3 variants listed assoc with DCM + a nonsense variant - 2 have ExAC data of 0.04 and 0.02% so may be too high freq. 11 variants listed in this paper in another table all but three have freq data >0.01%. Duboscq-Bidot 2009 - Five DCM families some segregation - probably only 2 informative segregations across five families but minimal data. Functional studies suggest pathogenicity. Moulik 2009 J Am Coll Cardiol. 2009 July 21; 54(4): 325333. 3 vairants in four DCM patients but two have reasonably high freq, no segregation but functional studies - suggest 1.9% of DCM cases and Duboscq-Bidot suggest 2% DCM cases. Not much more recently apart from Dalin where possibly 3 candidate variants
Dilated Cardiomyopathy and conduction defects v1.54 VCL Rebecca Whittington commented on gene: VCL: HGMD: 6/17 variants assoc with DCM listed as DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TTN Rebecca Whittington commented on gene: TTN: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 25% of DCM patients) and Pugh (2014) Genet Med 16, 601. Also refer to Roberts (2015) Sci Transl Med 7: 270ra6.
Dilated Cardiomyopathy and conduction defects v1.54 TPM1 Rebecca Whittington commented on gene: TPM1: GMD: 10/27 variants assoc with DCM classed as DM with some functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNT2 Rebecca Whittington commented on gene: TNNT2: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 3% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNI3 Rebecca Whittington commented on gene: TNNI3: HGMD: 8/14 variants assoc with DCM are DM. Including functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - variants only detected in paediatric cases.
Dilated Cardiomyopathy and conduction defects v1.54 TNNC1 Rebecca Whittington commented on gene: TNNC1: HGMD: 6/11 variants assoc with DCM classed as DM, including the variant in our family. A number of these variants have functional studies. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531 and Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants detected).
Dilated Cardiomyopathy and conduction defects v1.54 TCAP Rebecca Whittington commented on gene: TCAP: HGMD: 8 variants assoc with DCM, all but three are ?DM. Hirtle-Lewis Clin. Cardiol. 36, 10, 628633 (2013) found two clinically significant variants with DCM. Walsh 2017 - two DCM patients with same TCAP variants. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 TAZ Rebecca Whittington commented on gene: TAZ: Paediatric onset disease. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 SGCD Rebecca Whittington commented on gene: SGCD: HGMD: 6 variants all but one ?DM, though a number listed in Walsh through LMM and classified as LP. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants though), Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 SCN5A Rebecca Whittington commented on gene: SCN5A: HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 RBM20 Rebecca Whittington commented on gene: RBM20: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 - mainly in paediatric cases. Also see Wells Circ Cardiovasc Genet. 2013 August ; 6(4): 317326 and Refaat Heart Rhythm. 2012 March ; 9(3): 390396.
Dilated Cardiomyopathy and conduction defects v1.54 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also.
Dilated Cardiomyopathy and conduction defects v1.54 PLN Rebecca Whittington commented on gene: PLN: HGMD: 9 variants assoc with DCM but note appears to overlap of some variants with HCM, 2 x ?DM. All but one variant have multiple literature associated which is quite recent such as Walsh 2017 and Alfares 2015. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. - Note not many variants in these three studies.
Dilated Cardiomyopathy and conduction defects v1.54 NEXN Rebecca Whittington commented on gene: NEXN: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 MYH7 Rebecca Whittington commented on gene: MYH7: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 MYH6 Rebecca Whittington commented on gene: MYH6: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients).
Dilated Cardiomyopathy and conduction defects v1.54 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 (no clearly LP or pathogenic variants).
Dilated Cardiomyopathy and conduction defects v1.54 LMNA Rebecca Whittington commented on gene: LMNA: Core gene . Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 6% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 LDB3 Rebecca Whittington commented on gene: LDB3: HGMD: Four variants assoc with DCM - only one DM. Haas 2015 lists 2 as VUS. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 HFE Rebecca Whittington commented on gene: HFE: Adult onset haemochromatosis.
Dilated Cardiomyopathy and conduction defects v1.54 FKTN Rebecca Whittington commented on gene: FKTN: HGMD: 4 variants 3 x DM but older literature.
Dilated Cardiomyopathy and conduction defects v1.54 EYA4 Rebecca Whittington commented on gene: EYA4: HGMD: 1 x variant assoc with DCM and deafness: Schonberger (2005) Nat Genet 37, 418. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 DSP Rebecca Whittington commented on gene: DSP: HGMD: 52 variants assoc with DCM on HGMD. Many classed as ?DM (many from Walsh 2017). Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 DMD Rebecca Whittington commented on gene: DMD: HGMD: 40 variants listed including CNVs. Only 8 classed as VUS and all missense. 1 x nonsense Pathogenic: Cuenca (2016) J Heart Lung Transplant 35: 625. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531. Review: Nakamura Pharmaceuticals 2015, 8, 303-320; doi:10.3390/ph8020303
Dilated Cardiomyopathy and conduction defects v1.54 DES Rebecca Whittington commented on gene: DES: HGMD: 24 variants assoc DCM - 12 DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 CSRP3 Rebecca Whittington commented on gene: CSRP3: 7 variants on HGMD only two DM. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 - no variants detected, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 BAG3 Rebecca Whittington commented on gene: BAG3: Core gene. HGMD 40 variants listed with DCM only 2 VUS. Many truncating variants.In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 ACTN2 Rebecca Whittington commented on gene: ACTN2: 11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. Note Walsh 2017 classes all variants found in their cohort as VUS. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ACTC1 Rebecca Whittington commented on gene: ACTC1: Reported by Augire et al (2015) PLoS ONE 10(6):e0127903 tracking in six family members with ASD but some DCM also. 12 variants on HGMD - 7 classed as DM in a number of literature reviews including Dal Ferro 2017. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ABCC9 Rebecca Whittington commented on gene: ABCC9: 2 variants in 2004 paper (Bienengraeber M Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21.). 10 variants on HGMD assoc with DCM - only one from the Bienengraeber paper classed as DM but one nonsense classed as LP in Walsh by LMM group. Included in review of DCM genes -Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601)
Dilated Cardiomyopathy and conduction defects v1.54 SGCB Rebecca Whittington commented on gene: SGCB: Listed with LGMD and DCM can be rarely associated: https://omim.org/clinicalSynopsis/604286. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Dilated Cardiomyopathy and conduction defects v1.54 SDHA Rebecca Whittington commented on gene: SDHA: Alston (J Med Genet 2012;49:569577. doi:10.1136/jmedgenet-2012-101146) reported a case of DCM and leukodystrophy in a patient compound heterozygous for variants in this gene. Levitas (2010 European Journal of Human Genetics (2010) 18, 11601165; doi:10.1038/ejhg.2010.83; published online 16 June 2010) This is a more early onset recessive, mitochondrial gene. Homozygosity for a specific variant G555E in dilated cardiomyopathy in specific populations including in 2010 the Bedouin population - 15 cases of paediatric cardiomyopathy - variant p.Gly555Glu has only one allele on GnomAD. This variant was also described in other populations assoc with DCM including Pagnamenta Mol Genet Metab. 2006 Nov;89(3):214-21. Epub 2006 Jun 23 and Van Coster Am J Med Genet A. 2003 Jul 1;120A(1):13-8.
Dilated Cardiomyopathy and conduction defects v1.54 NPPA Rebecca Whittington commented on gene: NPPA: AR disease: Disertori (Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29).ARg150Gln identified in the homozygous state in six individuals in a small region of Italy patients had DCM and atrial standstill.
Dilated Cardiomyopathy and conduction defects v1.54 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: HGMD: Four variants classed as DM and associated with DCM: Hanley 2016 (Hanley et al. BMC Medical Genetics (2016) 17:83): Two families with variants in the same codon I184. Some suggestion of variants tracking with disease, family members have mix of DCM and CHD such as VSD and ASD as well as conduction defects. Appears to have reduced disease penetrance so some evidence but not strong. 1 family tracks with disease in 2 generations but also found in four unaffected family members (reduced penetrance and possibly age of onset); second family variant tracks through 2 generations with four affected family members, but not seen in a family member with VSD and a second family member with VT. Neither variant on GnomAD. Yuan 2015 reports a variant fully penetrant tracking with DCM patients also had AF and AVB. Study of this variant in an insilico study suggests pathogenic: Abdul Samad PLoS One. 2016 May 6;11(5):e0153999. doi: 10.1371/journal.pone.0153999. eCollection 2016. Xu Int Heart J 2017; 58: 521-529: two patients with NKX2-5 vairants who presented with adult onset DCM but also previously had VSD and AVB, both variants were de novo following parental studies.
Dilated Cardiomyopathy and conduction defects v1.54 MPO Rebecca Whittington commented on gene: MPO: No reference to DCM on HGMD or OMIM or as far as I can see in the literature
Dilated Cardiomyopathy and conduction defects v1.54 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with DCM (6) and ARVC (2). One reference with cardiomyopathy 2018: Szabadosova J Clin Lab Anal. 2018 Feb;32(2) - NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Dilated Cardiomyopathy and conduction defects v1.54 ACTA1 Rebecca Whittington commented on gene: ACTA1: Very rare cause but can be an additional feature along with myopathy see: Gatayama Pediatrics 2013;131:e1e5 - 1 case study of nemaline myopathy and DCM. Reza 2018 (Circ Genom Precis Med. 2018;11:e002243. DOI: 10.1161/CIRCGEN.118.002243) - large family with a proband, sibling and cousin all affected with DCM and a ACTA1 variant which has no GnomAD freq, there are three obligate carriers of the variant who are affected between these relatives, suggesting high penetrance disease causing variant, adult onset in this family reported. Tadokoro 2018( Journal of the Neurological Sciences 393 (2018) 142144: 1) presented a case series of 7 patients presenting with myopathy: 2 had DCM 5 had HCM, all childhood onset.
Dilated Cardiomyopathy and conduction defects v1.54 SCN1B Rebecca Whittington commented on gene: SCN1B: https://omim.org/entry/600235?search=scn1b&highlight=scn1b. Appears to be associated with conduction defects and AF. Not listed on HGMD with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN2 Rebecca Whittington commented on gene: PSEN2: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN1 Rebecca Whittington commented on gene: PSEN1: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 GATAD1 Rebecca Whittington commented on gene: GATAD1: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1. HGMD: only one variant - AR disease: Theis (2011) Circ Cardiovasc Genet 4: 585 PubMed: 21965549 Summary: 1 piece of literature with one homozygote variant - two affected individuals and consanguenious family. Functional studies undertaken.
Dilated Cardiomyopathy and conduction defects v1.54 TFR2 Rebecca Whittington commented on gene: TFR2: https://omim.org/clinicalSynopsis/604250. Cardiomyopathy is not a key feature so not a lot in literature - in Gene reviews states that cardiomyopathy is rare (https://www.ncbi.nlm.nih.gov/books/NBK1349/). Onset is younger than HFE - young adults upwards.
Dilated Cardiomyopathy and conduction defects v1.54 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Associated with AD Haemochromatosis which can be more paediatric to adult onset as shown in OMIM (see this variant SLC40A1, 3-BP DEL, VAL162DEL). Griffiths 2010 (Hepatology. 2010 Mar;51(3):788-95. doi: 10.1002/hep.23377). No Gene reviews and on OMIM does not go into details about how common the cardiac features are.
Dilated Cardiomyopathy and conduction defects v1.54 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: ?? Cannot find anything relevant in google or gene reviews - one paper in 2017 re severe DCM in the ITPA gene which has features similar to RAB3GAP2 ( Martsolf syndrome and DCM).
Dilated Cardiomyopathy and conduction defects v1.54 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: Mouse model showed progressive DCM (Herron 2005 Hum Mol Genet. 2005 Mar 1;14(5):667-77). HGMD: 2017 paper: Falik-Zaccai (2017) EMBO Mol Med 9, 319 - reported five Arab Christian infants, aged 430 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3 and were homozygous for the same nonsense variant in this gene. Patients fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice.
Dilated Cardiomyopathy and conduction defects v1.54 IDH2 Rebecca Whittington commented on gene: IDH2: A feature can be dilated cardiomyopathy. Nota (J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961) - two paediatric cases where first signs picked up prenatally on ultrasound, one of the two died of cardiac failure age 8 years. Kranendijk J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. - Variant at 140 assoc with this disorder. Note on HGMD only two variants in same nucleotide described. Akbay states cardiomyopathy requiring treatment is frequently observed in type II D2HGA patients (Kranendijk et al. 2010b, 2012). Note: 14 patients described in Kranendijk 2010 - 13 arisen denovo for the same variant Arg140Gln and also reported Arg140Gly in a patient.
Dilated Cardiomyopathy and conduction defects v1.54 HFE2 Rebecca Whittington commented on gene: HFE2: Assoc with haemochromatosis type 2A - this gene on omim is HJV?? early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/. See https://omim.org/entry/608374#0009.
Dilated Cardiomyopathy and conduction defects v1.54 HAMP Rebecca Whittington commented on gene: HAMP: Assoc with haemochromatosis type 2B Blood2018132:101-110;doi: https://doi.org/10.1182/blood-2018-02-830562. - early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/.
Dilated Cardiomyopathy and conduction defects v1.54 EPG5 Rebecca Whittington commented on gene: EPG5: Cullop, Nat Genet. 2013 January ; 45(1): 8387. 13 individuals with AR Vici syndrome which features include: callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation - patients are all paediatric so suggest paediatric panel. Ehmke 2014 - reviewed literature - 24 cases , including their patient who was homozygous for a variant in penultimate exon of the gene (Am J Med Genet A. 2014 Dec;164A(12):3170-5). Byrne 2016 (BRAIN 2016: 139; 765781) again review of literature mentions 50 cases, the consistent features do not include cardiomyopathy but is a frequent feature. Includes a knock down drosophilia model.
Catecholaminergic polymorphic VT v1.12 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: No evidence for this gene assoc with CPVT. PMID:27761157
Catecholaminergic polymorphic VT v1.12 KCNE1 Rebecca Whittington commented on gene: KCNE1: No evidence for this gene assoc with CPVT.
Catecholaminergic polymorphic VT v1.12 ANK2 Rebecca Whittington commented on gene: ANK2: No evidence for this gene assoc with CPVT. PMID:27761157.
Catecholaminergic polymorphic VT v1.12 TRDN Rebecca Whittington commented on gene: TRDN: Literature evidence including functional / family testing. PMID:22422768. PMID: 25922419
Catecholaminergic polymorphic VT v1.12 RYR2 Rebecca Whittington commented on gene: RYR2: Lots of literature evidence for this gene / established gene. PMID: 26018045. PMID:26114861. PMID:19926015.
Catecholaminergic polymorphic VT v1.12 CASQ2 Rebecca Whittington commented on gene: CASQ2: Literature evidence (inc cosegregation, functional). PMID:27157848. PMID:29178653. PMID: 21618644
Catecholaminergic polymorphic VT v1.12 CALM1 Rebecca Whittington commented on gene: CALM1: Literature evidence -see PMID Refs (including functional). PMID: 23040497. PMID:28491771. PMID: 23388215
Catecholaminergic polymorphic VT v1.12 TECRL Rebecca Whittington commented on gene: TECRL: Only one entry linked to one paper for cardiac arrhythmia but showed homozygosity for splice mutation that segregated in the family. Possible overlapping phenotype with LQTS. 3 different families described in the paper (2016): PMID:27861123
Catecholaminergic polymorphic VT v1.12 CALM3 Rebecca Whittington commented on gene: CALM3: Some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see ref: PMID:27516456
Catecholaminergic polymorphic VT v1.12 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see refs. PMID: 24917665. PMID:26969752. PMID: 23388215.
Brugada syndrome and cardiac sodium channel disease v1.37 SCN2B Rebecca Whittington commented on gene: SCN2B: Only a couple of publications - some frequency associated with the variants described. Variant described in the Riuro paper rare strong BI and some functional evidence. But Watanabe variants look less convincing.PMID:19808477. https://www.ncbi.nlm.nih.gov/pubmed/23559163?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 RANGRF Rebecca Whittington commented on gene: RANGRF: Some frequency >1% associated with the variant described in the Olesen paper (21621375). Uncertain role for this gene concluded in Campuzano paper (24142675). Literature suggests that this could be a 'susceptibility' gene. https://www.ncbi.nlm.nih.gov/pubmed/21621375?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24142675?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21447824?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 PKP2 Rebecca Whittington commented on gene: PKP2: Gene mainly associated with ARVC. NO strong evidence for Brugada - only 1 publication. PMID:24352520
Brugada syndrome and cardiac sodium channel disease v1.37 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: NO evidence of association with Brugada Syndrome. 23632791. Variant reported here is very frequent on Gnomad especially Ashkenazi Jews
Brugada syndrome and cardiac sodium channel disease v1.37 KCNH2 Rebecca Whittington commented on gene: KCNH2: Overwhelming evidence for LQT. No strong evidence for Brugada. PMID:25626866. https://www.ncbi.nlm.nih.gov/pubmed/24400717. https://www.ncbi.nlm.nih.gov/pubmed/16043162
Brugada syndrome and cardiac sodium channel disease v1.37 KCND3 Rebecca Whittington commented on gene: KCND3: Gene mainly assoc with ataxia /intellectual disability. NO strong evidence in the Giudicessi paper - both variants described do not have strong BI and some frequency on GnomAD. PMID:21349352. PMID:22840528. https://www.ncbi.nlm.nih.gov/pubmed/22284586?dopt=Abstract. https://pdfs.semanticscholar.org/496b/e70141f03f188a0215693739efed9ae36573.pdf.
Brugada syndrome and cardiac sodium channel disease v1.37 CAV3 Rebecca Whittington commented on gene: CAV3: NO evidence for Brugada Syndrome. More assoc with LQT but even that is weak. PMID: 26132555. https://www.ncbi.nlm.nih.gov/pubmed/17060380?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24021552
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 3 / 4 variants reported in this gene in the paper have frequency / high frequency on GnomAD and mixed BI. No strong evidence presented in PMID 20817017. PMID:25527503. PMID:21383000.
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Couple of reports suggesting association with Short QT arrhythmia and Timothy Syndome. One variant which is reported has very high frequency on GnomAD and mixed BI. Another variant has no frequency and mixed BI. (PMID 1722476) Needs Review as not typical Brugada. PMID:20817017. PMID:25184293
Brugada syndrome and cardiac sodium channel disease v1.37 ANK2 Rebecca Whittington commented on gene: ANK2: No strong evidence for Brugada. Phenotype does not seem to be clear in paper. Possible modifier gene. PMID:15178757. https://www.ncbi.nlm.nih.gov/pubmed/17242276?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 ABCC9 Rebecca Whittington commented on gene: ABCC9: Cantu gene - Gene assoc with specific features. No clear evidence from Hu paper as associated with Brugada - phenotypes overlapping and patient has SCN5A variant. PMID:24439875
Brugada syndrome and cardiac sodium channel disease v1.37 TRPM4 Rebecca Whittington commented on gene: TRPM4: Literature evidence including prevalence of variants in affected individuals and functional evidence. However appears mainly assoc with heart block /PCCD. PMID:23382873. PMID:29568272. https://www.ncbi.nlm.nih.gov/pubmed/21887725?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/26820365?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN5A Rebecca Whittington commented on gene: SCN5A: Lots of literature evidence including prevalence of variants in affected individuals. PMID:20129283. PMID:23805106. PMID:24573164. PMID:22739120
Brugada syndrome and cardiac sodium channel disease v1.37 SCN3B Rebecca Whittington commented on gene: SCN3B: Literature evidence including functional studies. PMID:20558140. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN1B Rebecca Whittington commented on gene: SCN1B: Literature evidence includes cosegregation and functional evidence. PMID:18464934. PMID:25253298. PMID:28878239
Brugada syndrome and cardiac sodium channel disease v1.37 SCN10A Rebecca Whittington commented on gene: SCN10A: Rare. Evidence for association SNP / polygenic contribution Largest study in Hu paper PMID:24998131. PMID:25691538. PMID:25691686. PMID:25053638. https://www.ncbi.nlm.nih.gov/pubmed/28407228?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE3 Rebecca Whittington commented on gene: KCNE3: Reported in Japanese patient with ?apparent functional effect but also recorded 36x on GnomAD and not strong BI. Also variant in Delpon paper recorder 26 times on GnomAD and mixed reviews. Needs review as no clear association. PMID:19122847. https://www.karger.com/Article/Abstract/113746. https://www.karger.com/Article/Abstract/113746
Brugada syndrome and cardiac sodium channel disease v1.37 HCN4 Rebecca Whittington commented on gene: HCN4: Milano (2014) paper (25145517) showed segregation / ?functional effect. Macri paper (24607718) showed functional effect. PMID: 27553229. https://ac.els-cdn.com/S0735109716015862/1-s2.0-S0735109716015862-main.pdf?_tid=89c56f79-58d9-413a-a162-598c96f24a0b&acdnat=1546869351_0c665867a80ab79d2af032616efe9099
Brugada syndrome and cardiac sodium channel disease v1.37 GPD1L Rebecca Whittington commented on gene: GPD1L: Variant described in the London paper is recorded 36x on GnomAD. Also several asymptomatic patients have the variant. Variant described in the Huang paper describes nonsense variant assoc with SID that segregated in the family but 36 x on GnomAD. Other variants listed on OMIM as pathogenic at very high frequency on gnomAD. Evidence is not strong for monogenic cause. PMID:17967977. PMID:29077258. PMID:17967976
Brugada syndrome and cardiac sodium channel disease v1.37 CACNB2 Rebecca Whittington commented on gene: CACNB2: Not much evidence for this gene. Variant described in Cardeiro paper (19358333) is not convincing. Other variant from Antzelevitch paper (17224476) tracks in family with Brugada, ? Functional evidence and strong BI and no frequency.PMID:22840528
Brugada syndrome and cardiac sodium channel disease v1.37 SLMAP Rebecca Whittington commented on gene: SLMAP: No strong evidence for this gene. Only one report - variant described does not come up on Alamut. The Val269Ile variant is sufficiently rare but not enough information. https://www.ncbi.nlm.nih.gov/pubmed/23064965?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE5 Rebecca Whittington commented on gene: KCNE5: NO strong evidence for this gene. Only one report - not enough information in report to look at variant in Alamut. PMID:18313602
Brugada syndrome and cardiac sodium channel disease v1.37 DLG1 Rebecca Whittington commented on gene: DLG1: No strong evidence for this gene
Arrhythmogenic right ventricular cardiomyopathy v1.22 TTN Rebecca Whittington commented on gene: TTN: PubMED: 29567486 - core gene. All missense on HGMD. Not for panel.
Arrhythmogenic right ventricular cardiomyopathy v1.22 TGFB3 Rebecca Whittington commented on gene: TGFB3: On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVC
Arrhythmogenic right ventricular cardiomyopathy v1.22 SCN5A Rebecca Whittington commented on gene: SCN5A: PubMED: 29567486 - core gene. Few variants on HGMD. 24317018 - I137M identified in one proband (no MAF, BI supporting). 28341781 DM origionally but downgraded to ?DM. Little evidence
Arrhythmogenic right ventricular cardiomyopathy v1.22 LMNA Rebecca Whittington commented on gene: LMNA: PubMED: 29567486 - core gene. Few patients on HGMD with DM variant and ARVC. Pubmed: 22199124 (LMNA variants mimic ARVC, some segregation. 4 families with ARVC and LMNA), 23684604. Genetic screening for LMNA gene is important for ARVC patients, particularly in patients with bradycardia (26620845) - 2 unrelated probands identified with LVNC variant - first LMNA mutation p.M1K was detected in a 62-year-old male proband, while the second mutation p.W514X was found in a 70-year-old male proband.
Arrhythmogenic right ventricular cardiomyopathy v1.22 LDB3 Rebecca Whittington commented on gene: LDB3: Some patients with DCM have LVNC.
Arrhythmogenic right ventricular cardiomyopathy v1.22 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: High rate of truncating variants in general population. Only a couple of reports assoc LQT and ARVC (but no real evidence). Only weak Class 3s reported at BGL. Low penetrance: 30092956
Arrhythmogenic right ventricular cardiomyopathy v1.22 TMEM43 Rebecca Whittington commented on gene: TMEM43: PubMED: 29567486 - core gene. Listed on HGMDPro assoc with ARVC and DCM - quite strong evidence from segregation etc for ARVC and recommendations to add to panels. Class 3s reported at BGL. Pubmed 26840987. Founder mutation p.S358L - functional evidence. Rare cause of ARVC
Arrhythmogenic right ventricular cardiomyopathy v1.22 RYR2 Rebecca Whittington commented on gene: RYR2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for CPVT as considered to be the main gene. Reported C5 RYR2 assoc with short QT. Multiple variants on HGMD however pathogenicity downgraded to VUS: Pubmed: 28404607. Insufficient evidence to include.
Arrhythmogenic right ventricular cardiomyopathy v1.22 PLN Rebecca Whittington commented on gene: PLN: DCM/HCM on OMIM - Not ARVC. HGMD - HCM/DCM. PubMED: 29567486 - core gene.
Arrhythmogenic right ventricular cardiomyopathy v1.22 PKP2 Rebecca Whittington commented on gene: PKP2: PubMED: 29567486 - core gene. Lots of reports on HGMDPro assoc with ARVC /Brugada- strong evidence with this. Class5 variants reported at BGL assoc with arrhythmia.
Arrhythmogenic right ventricular cardiomyopathy v1.22 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. NO pathogenic variants reported at BGL- only C3s.
Arrhythmogenic right ventricular cardiomyopathy v1.22 DSP Rebecca Whittington commented on gene: DSP: PubMED: 29567486 - core gene
Arrhythmogenic right ventricular cardiomyopathy v1.22 DSG2 Rebecca Whittington commented on gene: DSG2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for ARVC - including good evidence. One C4 reported at BGL.
Arrhythmogenic right ventricular cardiomyopathy v1.22 DSC2 Rebecca Whittington commented on gene: DSC2: PubMED: 29567486 - core gene. Lots of entries for ARVC for this gene including functional evidence. One class 4 assoc with LVNC - others weak Class 3.
Arrhythmogenic right ventricular cardiomyopathy v1.22 DES Rebecca Whittington commented on gene: DES: PubMED: 29567486 - core gene. Myopathy, myofibrillar, 1 associated with cardiac abnormalities (AD/AR inheritance). Less common ARVC gene. Listed in review, rare cause <1% Pubmed: 30092956. HGMD, 2 DM variants, 1 with functional work.
Arrhythmogenic right ventricular cardiomyopathy v1.22 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with mainly DCM, with with ARVC. Two references are 2018 (PMID30165862). Both NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Thoracic aortic aneurysm or dissection v1.88 FOXE3 Rebecca Whittington reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 CBS Rebecca Whittington reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFBR2 Rebecca Whittington reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFBR1 Rebecca Whittington reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFB3 Rebecca Whittington reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFB2 Rebecca Whittington reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD4 Rebecca Whittington reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD3 Rebecca Whittington reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD2 Rebecca Whittington reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SLC2A10 Rebecca Whittington reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SKI Rebecca Whittington reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 PRKG1 Rebecca Whittington reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 PLOD1 Rebecca Whittington reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 NOTCH1 Rebecca Whittington reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 MYLK Rebecca Whittington reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 MYH11 Rebecca Whittington reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 LOX Rebecca Whittington reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FLNA Rebecca Whittington reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FBN2 Rebecca Whittington reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FBN1 Rebecca Whittington reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ELN Rebecca Whittington reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 EFEMP2 Rebecca Whittington reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL5A2 Rebecca Whittington reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL5A1 Rebecca Whittington reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL3A1 Rebecca Whittington reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ACTA2 Rebecca Whittington reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ZNF469 Rebecca Whittington reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 TNXB Rebecca Whittington reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 SLC39A13 Rebecca Whittington reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 MFAP5 Rebecca Whittington reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 LTBP2 Rebecca Whittington reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 KCNN1 Rebecca Whittington reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Thoracic aortic aneurysm or dissection v1.88 HNRNPK Rebecca Whittington reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 FKBP14 Rebecca Whittington reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 FBLN5 Rebecca Whittington reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL9A3 Rebecca Whittington reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL9A2 Rebecca Whittington reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL9A1 Rebecca Whittington reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL4A1 Rebecca Whittington reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL2A1 Rebecca Whittington reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL11A2 Rebecca Whittington reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL11A1 Rebecca Whittington reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 CHST14 Rebecca Whittington reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 B4GALT7 Rebecca Whittington reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ATP7A Rebecca Whittington reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 ATP6V0A2 Rebecca Whittington reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ALDH18A1 Rebecca Whittington reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ADAMTS2 Rebecca Whittington reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ACVR1 Rebecca Whittington reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 ABCC6 Rebecca Whittington reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 PKD2 Rebecca Whittington reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 PKD1 Rebecca Whittington reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 MED12 Rebecca Whittington reviewed gene: MED12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 FLCN Rebecca Whittington reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL1A2 Rebecca Whittington reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL1A1 Rebecca Whittington reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 BGN Rebecca Whittington reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 ABL1 Rebecca Whittington reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.8 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 CACNA2D1 Rebecca Whittington reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 SLC4A3 Rebecca Whittington reviewed gene: SLC4A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 SLC22A5 Rebecca Whittington reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v1.8 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.16 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 GJA5 Rebecca Whittington reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 NKX2-5 Rebecca Whittington reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TBX3 Rebecca Whittington reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TBX5 Rebecca Whittington reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 EMD Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 HCN4 Rebecca Whittington reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TRPM4 Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 KCNK17 Rebecca Whittington reviewed gene: KCNK17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Long QT syndrome v1.24 SCN4B Rebecca Whittington reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 NOS1AP Rebecca Whittington reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Long QT syndrome v1.24 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Long QT syndrome v1.24 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 CALM1 Rebecca Whittington reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 AKAP9 Rebecca Whittington reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 SNTA1 Rebecca Whittington reviewed gene: SNTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 KCNJ5 Rebecca Whittington reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNE2 Rebecca Whittington reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNE1 Rebecca Whittington reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 CALM3 Rebecca Whittington reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Long QT syndrome v1.24 CALM2 Rebecca Whittington reviewed gene: CALM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.24 ALG10 Rebecca Whittington reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 ACTN2 Rebecca Whittington reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNT2 Rebecca Whittington reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNI3 Rebecca Whittington reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNC1 Rebecca Whittington reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 PRKAG2 Rebecca Whittington reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 PLN Rebecca Whittington reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYL3 Rebecca Whittington reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYL2 Rebecca Whittington reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYH7 Rebecca Whittington reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYBPC3 Rebecca Whittington reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 LAMP2 Rebecca Whittington reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 GLA Rebecca Whittington reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 FHL1 Rebecca Whittington reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 CSRP3 Rebecca Whittington reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 ACTC1 Rebecca Whittington reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TRIM63 Rebecca Whittington reviewed gene: TRIM63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 TMEM70 Rebecca Whittington reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MYOZ2 Rebecca Whittington reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYOM1 Rebecca Whittington reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 VCL Rebecca Whittington reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 TTN Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 TSFM Rebecca Whittington reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 TCAP Rebecca Whittington reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SOS1 Rebecca Whittington reviewed gene: SOS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SLC25A4 Rebecca Whittington reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 SLC25A3 Rebecca Whittington reviewed gene: SLC25A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 SHOC2 Rebecca Whittington reviewed gene: SHOC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SCO2 Rebecca Whittington reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 RAF1 Rebecca Whittington reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 PTPN11 Rebecca Whittington reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 NRAS Rebecca Whittington reviewed gene: NRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYO6 Rebecca Whittington reviewed gene: MYO6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MT-TL1 Rebecca Whittington reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 MRPL3 Rebecca Whittington reviewed gene: MRPL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MAP2K2 Rebecca Whittington reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 MAP2K1 Rebecca Whittington reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 KLF10 Rebecca Whittington reviewed gene: KLF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 HRAS Rebecca Whittington reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 GUSB Rebecca Whittington reviewed gene: GUSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 GLB1 Rebecca Whittington reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 GAA Rebecca Whittington reviewed gene: GAA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 FXN Rebecca Whittington reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 FOXRED1 Rebecca Whittington reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 CRYAB Rebecca Whittington reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 COA5 Rebecca Whittington reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 CASQ2 Rebecca Whittington reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 CALR3 Rebecca Whittington reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 BRAF Rebecca Whittington reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 ATP5E Rebecca Whittington reviewed gene: ATP5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 AGL Rebecca Whittington reviewed gene: AGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 ACADVL Rebecca Whittington reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 NEXN Rebecca Whittington reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYLK2 Rebecca Whittington reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 JPH2 Rebecca Whittington reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 DES Rebecca Whittington reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 ACTA1 Rebecca Whittington reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MYH6 Rebecca Whittington reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 XK Rebecca Whittington reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TXNRD2 Rebecca Whittington reviewed gene: TXNRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TMPO Rebecca Whittington reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TMEM43 Rebecca Whittington reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SYNE2 Rebecca Whittington reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SYNE1 Rebecca Whittington reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PRKAG2 Rebecca Whittington reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PRDM16 Rebecca Whittington reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 NEBL Rebecca Whittington reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYL3 Rebecca Whittington reviewed gene: MYL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYL2 Rebecca Whittington reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LAMP2 Rebecca Whittington reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LAMA4 Rebecca Whittington reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 JUP Rebecca Whittington reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ILK Rebecca Whittington reviewed gene: ILK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 GLA Rebecca Whittington reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FHL2 Rebecca Whittington reviewed gene: FHL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FHL1 Rebecca Whittington reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 EMD Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSC2 Rebecca Whittington reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DOLK Rebecca Whittington reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DNAJC19 Rebecca Whittington reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DMPK Rebecca Whittington reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CTF1 Rebecca Whittington reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CRYAB Rebecca Whittington reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 VCL Rebecca Whittington reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TTN Rebecca Whittington reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNT2 Rebecca Whittington reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNI3 Rebecca Whittington reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNC1 Rebecca Whittington reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TCAP Rebecca Whittington reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TAZ Rebecca Whittington reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SGCD Rebecca Whittington reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RBM20 Rebecca Whittington reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RAF1 Rebecca Whittington reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PLN Rebecca Whittington reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 NEXN Rebecca Whittington reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYH7 Rebecca Whittington reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYH6 Rebecca Whittington reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYBPC3 Rebecca Whittington reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 HFE Rebecca Whittington reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FKTN Rebecca Whittington reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 EYA4 Rebecca Whittington reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSP Rebecca Whittington reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DMD Rebecca Whittington reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CSRP3 Rebecca Whittington reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 BAG3 Rebecca Whittington reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ACTN2 Rebecca Whittington reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ACTC1 Rebecca Whittington reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ABCC9 Rebecca Whittington reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SGCB Rebecca Whittington reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 SDHA Rebecca Whittington reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 NPPA Rebecca Whittington reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 NKX2-5 Rebecca Whittington reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 MPO Rebecca Whittington reviewed gene: MPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.53 ACTA1 Rebecca Whittington reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 PSEN2 Rebecca Whittington reviewed gene: PSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 PSEN1 Rebecca Whittington reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 GATAD1 Rebecca Whittington reviewed gene: GATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 TFR2 Rebecca Whittington reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 SLC40A1 Rebecca Whittington reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 RAB3GAP2 Rebecca Whittington reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 PPP1R13L Rebecca Whittington reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 IDH2 Rebecca Whittington reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 HFE2 Rebecca Whittington reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 HAMP Rebecca Whittington reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 EPG5 Rebecca Whittington reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.11 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 KCNE1 Rebecca Whittington reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 TRDN Rebecca Whittington reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 CASQ2 Rebecca Whittington reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 CALM1 Rebecca Whittington reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 TECRL Rebecca Whittington reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.11 CALM3 Rebecca Whittington reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Catecholaminergic polymorphic VT v1.11 CALM2 Rebecca Whittington reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.36 SCN2B Rebecca Whittington reviewed gene: SCN2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 RANGRF Rebecca Whittington reviewed gene: RANGRF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNJ8 Rebecca Whittington reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCND3 Rebecca Whittington reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNA2D1 Rebecca Whittington reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 ABCC9 Rebecca Whittington reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 TRPM4 Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN3B Rebecca Whittington reviewed gene: SCN3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN10A Rebecca Whittington reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 HCN4 Rebecca Whittington reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 GPD1L Rebecca Whittington reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SLMAP Rebecca Whittington reviewed gene: SLMAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE5 Rebecca Whittington reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.36 DLG1 Rebecca Whittington reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Arrhythmogenic right ventricular cardiomyopathy v1.21 TTN Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 TGFB3 Rebecca Whittington reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 CTNNA3 Rebecca Whittington reviewed gene: CTNNA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 TMEM43 Rebecca Whittington reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 PLN Rebecca Whittington reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 JUP Rebecca Whittington reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DSP Rebecca Whittington reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DSC2 Rebecca Whittington reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DES Rebecca Whittington reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.15 UQCC1 Anna de Burca Classified gene: UQCC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.15 UQCC1 Anna de Burca Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.14 UQCR10 Anna de Burca Classified gene: UQCR10 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.14 UQCR10 Anna de Burca Gene: uqcr10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.13 UQCR11 Anna de Burca Classified gene: UQCR11 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.13 UQCR11 Anna de Burca Gene: uqcr11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.12 UQCRB Anna de Burca Classified gene: UQCRB as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.12 UQCRB Anna de Burca Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.11 UQCRQ Anna de Burca Classified gene: UQCRQ as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.11 UQCRQ Anna de Burca Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.10 UQCC3 Anna de Burca Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.10 UQCC3 Anna de Burca Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.9 UQCRH Anna de Burca Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.9 UQCRH Anna de Burca Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.8 UQCRFS1 Anna de Burca Classified gene: UQCRFS1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.8 UQCRFS1 Anna de Burca Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.7 UQCRC2 Anna de Burca Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.7 UQCRC2 Anna de Burca Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.6 UQCRC1 Anna de Burca Classified gene: UQCRC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.6 UQCRC1 Anna de Burca Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.5 UQCC2 Anna de Burca Classified gene: UQCC2 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.5 UQCC2 Anna de Burca Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.11 SDHAF4 Anna de Burca Classified gene: SDHAF4 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.11 SDHAF4 Anna de Burca Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.10 SDHB Anna de Burca Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.10 SDHB Anna de Burca Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.9 SDHC Anna de Burca Classified gene: SDHC as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.9 SDHC Anna de Burca Gene: sdhc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.8 SDHD Anna de Burca Classified gene: SDHD as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.8 SDHD Anna de Burca Gene: sdhd has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.7 SDHAF3 Anna de Burca Classified gene: SDHAF3 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.7 SDHAF3 Anna de Burca Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.6 SDHAF2 Anna de Burca Classified gene: SDHAF2 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.6 SDHAF2 Anna de Burca Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.5 SDHAF1 Anna de Burca Classified gene: SDHAF1 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.5 SDHAF1 Anna de Burca Gene: sdhaf1 has been classified as Amber List (Moderate Evidence).
Osteogenesis imperfecta v1.17 CREB3L1 Duncan Baker edited their review of gene: CREB3L1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.7 TFAM Anna de Burca Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial DNA maintenance disorder v0.7 TFAM Anna de Burca Added comment: Comment on list classification: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence.
Mitochondrial DNA maintenance disorder v0.7 TFAM Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial liver disease, including transient infantile liver failure v0.5 TFAM Anna de Burca Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial liver disease, including transient infantile liver failure v0.5 TFAM Anna de Burca Added comment: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence.
Mitochondrial liver disease, including transient infantile liver failure v0.5 TFAM Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.149 TIMM8A Rebecca Foulger Source Expert Review Red was added to TIMM8A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 THAP1 Rebecca Foulger Source Expert Review Red was added to THAP1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SYNE1 Rebecca Foulger Source Expert Review Red was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SPTLC2 Rebecca Foulger Source Expert Review Red was added to SPTLC2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SMCHD1 Rebecca Foulger Source Expert Review Green was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 SMAD4 Rebecca Foulger Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 SLC4A11 Rebecca Foulger Source Expert Review Red was added to SLC4A11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SLC4A1 Rebecca Foulger Source Expert Review Red was added to SLC4A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 POLD1 Rebecca Foulger Source Expert Review Red was added to POLD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 PDCD10 Rebecca Foulger Source Expert Review Green was added to PDCD10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 NR5A1 Rebecca Foulger Source Expert Review Green was added to NR5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 MYO7A Rebecca Foulger Source Expert Review Red was added to MYO7A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 MYH8 Rebecca Foulger Source Expert Review Green was added to MYH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 LMNA Rebecca Foulger Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 KRIT1 Rebecca Foulger Source Expert Review Green was added to KRIT1.
Publications for gene KRIT1 were changed from to 28749478
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 KIT Rebecca Foulger Source Expert Review Red was added to KIT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 KCNE1 Rebecca Foulger Source Expert Review Red was added to KCNE1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 KARS Rebecca Foulger Source Expert Review Red was added to KARS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 FAM161A Rebecca Foulger Source Expert Review Red was added to FAM161A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 COL4A2 Rebecca Foulger Source Expert Review Green was added to COL4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 COL4A1 Rebecca Foulger Source Expert Review Green was added to COL4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 CLN6 Rebecca Foulger Source Expert Review Red was added to CLN6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 CISD2 Rebecca Foulger Source Expert Review Red was added to CISD2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 CDH1 Rebecca Foulger Source Expert Review Green was added to CDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 BRCA1 Rebecca Foulger Source Expert Review Red was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 ATP1A3 Rebecca Foulger Source Expert Review Red was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AR Rebecca Foulger Source Expert Review Green was added to AR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 ALDOB Rebecca Foulger Source Expert Review Red was added to ALDOB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AIRE Rebecca Foulger Source Expert Review Red was added to AIRE.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AGXT Rebecca Foulger Source Expert Review Red was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 ACTA2 Rebecca Foulger Source Expert Review Green was added to ACTA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 ACADS Rebecca Foulger Source Expert Review Red was added to ACADS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AMER1 Rebecca Foulger Source Expert Review Green was added to AMER1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.148 TIMM8A Rebecca Foulger edited their review of gene: TIMM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted TIMM8A gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 THAP1 Rebecca Foulger edited their review of gene: THAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted THAP1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SYNE1 Rebecca Foulger edited their review of gene: SYNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SYNE1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SPTLC2 Rebecca Foulger edited their review of gene: SPTLC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SPTLC2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SMCHD1 Rebecca Foulger edited their review of gene: SMCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMCHD1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 SMAD4 Rebecca Foulger edited their review of gene: SMAD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMAD4 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 SLC4A11 Rebecca Foulger edited their review of gene: SLC4A11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A11 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SLC4A1 Rebecca Foulger edited their review of gene: SLC4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 POLD1 Rebecca Foulger edited their review of gene: POLD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Does not seem to have evidence for prenatal presentation, and risk of cancer predisposition as an incidental finding. Action taken: Demoted POLD1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 PDCD10 Rebecca Foulger edited their review of gene: PDCD10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted PDCD10 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 NR5A1 Rebecca Foulger edited their review of gene: NR5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted NR5A1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 MYO7A Rebecca Foulger edited their review of gene: MYO7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 MYH8 Rebecca Foulger edited their review of gene: MYH8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted MYH8 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 LMNA Rebecca Foulger edited their review of gene: LMNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 KRIT1 Rebecca Foulger edited their review of gene: KRIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. One case has been reported for a Biallelic variant in this gene prenatally, for a different phenotype (PMID: 28749478). Action taken: Promoted KRIT1 gene rating from Amber to Green.; Changed rating: GREEN; Changed publications: 28749478
Fetal anomalies v0.148 KIT Rebecca Foulger edited their review of gene: KIT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 KCNE1 Rebecca Foulger edited their review of gene: KCNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KCNE1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 KARS Rebecca Foulger edited their review of gene: KARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KARS gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 FAM161A Rebecca Foulger edited their review of gene: FAM161A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted FAM161A gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 COL4A2 Rebecca Foulger edited their review of gene: COL4A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A2 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 CLN6 Rebecca Foulger edited their review of gene: CLN6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CLN6 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 CISD2 Rebecca Foulger edited their review of gene: CISD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CISD2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 CDH1 Rebecca Foulger edited their review of gene: CDH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Obvious structural phenotype. Action taken: Promoted CDH1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 BRCA1 Rebecca Foulger edited their review of gene: BRCA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 ATP1A3 Rebecca Foulger edited their review of gene: ATP1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ATP1A3 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AR Rebecca Foulger edited their review of gene: AR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. STRs are NOT to be reported. Action taken: Promoted AR gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 ALDOB Rebecca Foulger edited their review of gene: ALDOB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ALDOB gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AIRE Rebecca Foulger edited their review of gene: AIRE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted AIRE gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AGXT Rebecca Foulger edited their review of gene: AGXT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted AGXT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 ACTA2 Rebecca Foulger edited their review of gene: ACTA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Moyamoya disease could present on an MRI. Action taken: Promoted ACTA2 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 ACADS Rebecca Foulger edited their review of gene: ACADS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted ACADS gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AMER1 Rebecca Foulger edited their review of gene: AMER1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Include because causes an important phenotype. Action taken: Promoted AMER1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.147 LRP5 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance was recorded as biallelic for 'OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME' and monoallelic for 'HIGH BONE MASS TRAIT', 'OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1', 'ENDOSTEAL HYPEROSTOSIS WORTH TYPE' and 'VITREORETINOPATHY EXUDATIVE TYPE 4'. Changed inheritance to 'biallelic' only following clinical review.
Fetal anomalies v0.147 LRP5 Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.146 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to X-linked dominant after clinical review so that both X-linked dominant and X-linked recessive inheritance would be picked up.
Fetal anomalies v0.146 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.145 GJB2 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, inheritance was listed as biallelic for 'DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A' and monoallelic for 'PALMOPLANTAR KERATODERMA WITH DEAFNESS', 'ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME', 'VOHWINKEL SYNDROME' and 'BART-PUMPHREY SYNDROME'. Changed MOI to 'monoallelic' only following clinical review because the deafness phenotype alone is not detectable pre-natally.
Fetal anomalies v0.145 GJB2 Rebecca Foulger Mode of inheritance for gene: GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.144 GJA1 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance.
Fetal anomalies v0.144 GJA1 Rebecca Foulger Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 CRYAA Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance.
Fetal anomalies v0.143 CRYAA Rebecca Foulger Mode of inheritance for gene: CRYAA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.142 CASK Rebecca Foulger commented on gene: CASK: In the original PAGE file, MOI listed as X-linked dominant for 'MENTAL RETARDATION X-LINKED CASK-RELATED, and Hemizygous for 'FG SYNDROME TYPE 4' and 'MRX WITH/WITHOUT NYSTAGMUS'.
Fetal anomalies v0.142 ALDH18A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance in original PAGE file was Monoallelic for 'CUTIS LAXA, AUTOSOMAL DOMINANT 3' and 'SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT', and Biallelic for 'MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES'. Clinical review confirmed that ALDH18A1 should be on the panel with both monoallelic and biallelic inheritance.
Fetal anomalies v0.142 ALDH18A1 Rebecca Foulger Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.141 ACOX1 Rebecca Foulger Added comment: Comment on phenotypes: 'Peroxisomal acyl-CoA oxidase deficiency, 264470' phenotype was added from OMIM, following clinical review. The 'ADRENOLEUKODYSTROPHY PSEUDONEONATAL' phenotype came from the original PAGE file and DD-Gene2Phenotype.
Fetal anomalies v0.141 ACOX1 Rebecca Foulger Phenotypes for gene: ACOX1 were changed from ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 to ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470
Fetal anomalies v0.140 SOST Rebecca Foulger Phenotypes for gene: SOST were changed from 269500; SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 to SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860
Fetal anomalies v0.139 SOST Rebecca Foulger Added comment: Comment on mode of inheritance: SOST was originally in the PAGE Additional list with 'Biallelic' inheritance and a confirmed rating. Changed the inheritance to both monoallelic and biallelic following clinical review.
Fetal anomalies v0.139 SOST Rebecca Foulger Mode of inheritance for gene: SOST was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.138 MSH6 Rebecca Foulger Added comment: Comment on mode of inheritance: The Mode of inheritance in the Additional PAGE list was recorded as 'Monoallelic' with a Confirmed rating. Phenotype was changed to Biallelic following clinical review.
Fetal anomalies v0.138 MSH6 Rebecca Foulger Mode of inheritance for gene: MSH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.137 MSH2 Rebecca Foulger Added comment: Comment on mode of inheritance: The Mode of inheritance in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Fetal anomalies v0.137 MSH2 Rebecca Foulger Mode of inheritance for gene: MSH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.136 MLH1 Rebecca Foulger Added comment: Comment on mode of inheritance: The MOI in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Fetal anomalies v0.136 MLH1 Rebecca Foulger Mode of inheritance for gene: MLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 NYX Rebecca Foulger Source Expert Review Red was added to NYX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NTRK1 Rebecca Foulger Source Expert Review Red was added to NTRK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NT5C3A Rebecca Foulger Source Expert Review Red was added to NT5C3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NR2F1 Rebecca Foulger Source Expert Review Red was added to NR2F1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NPHS2 Rebecca Foulger Source Expert Review Red was added to NPHS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NPHP4 Rebecca Foulger Source Expert Review Red was added to NPHP4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NMNAT1 Rebecca Foulger Source Expert Review Red was added to NMNAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NKX2-1 Rebecca Foulger Source Expert Review Red was added to NKX2-1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NGLY1 Rebecca Foulger Source Expert Review Red was added to NGLY1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NDP Rebecca Foulger Source Expert Review Red was added to NDP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NAGS Rebecca Foulger Source Expert Review Red was added to NAGS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYT1L Rebecca Foulger Source Expert Review Red was added to MYT1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYO5B Rebecca Foulger Source Expert Review Red was added to MYO5B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYO5A Rebecca Foulger Source Expert Review Red was added to MYO5A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MUT Rebecca Foulger Source Expert Review Red was added to MUT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTRR Rebecca Foulger Source Expert Review Red was added to MTRR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTR Rebecca Foulger Source Expert Review Red was added to MTR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTHFR Rebecca Foulger Source Expert Review Red was added to MTHFR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MSL3 Rebecca Foulger Publications for gene MSL3 were changed from to 30224647
Fetal anomalies v0.135 MRE11 Rebecca Foulger Source Expert Review Red was added to MRE11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MPI Rebecca Foulger Source Expert Review Red was added to MPI.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMADHC Rebecca Foulger Source Expert Review Red was added to MMADHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMACHC Rebecca Foulger Source Expert Review Red was added to MMACHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMAB Rebecca Foulger Source Expert Review Red was added to MMAB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMAA Rebecca Foulger Source Expert Review Red was added to MMAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MICU1 Rebecca Foulger Source Expert Review Red was added to MICU1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MGAT2 Rebecca Foulger Source Expert Review Red was added to MGAT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MFSD8 Rebecca Foulger Source Expert Review Red was added to MFSD8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MECP2 Rebecca Foulger Source Expert Review Red was added to MECP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCEE Rebecca Foulger Source Expert Review Red was added to MCEE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCCC2 Rebecca Foulger Source Expert Review Red was added to MCCC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCCC1 Rebecca Foulger Source Expert Review Red was added to MCCC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MC2R Rebecca Foulger Source Expert Review Red was added to MC2R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LTBP2 Rebecca Foulger Source Expert Review Red was added to LTBP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LRP5 Rebecca Foulger Mode of inheritance for gene LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 LMBRD1 Rebecca Foulger Source Expert Review Red was added to LMBRD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LEMD3 Rebecca Foulger Source Expert Review Red was added to LEMD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KMT5B Rebecca Foulger Source Expert Review Red was added to KMT5B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNQ2 Rebecca Foulger Source Expert Review Red was added to KCNQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNC1 Rebecca Foulger Source Expert Review Red was added to KCNC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNB1 Rebecca Foulger Source Expert Review Red was added to KCNB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNA2 Rebecca Foulger Source Expert Review Red was added to KCNA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 JAK3 Rebecca Foulger Source Expert Review Red was added to JAK3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 JAGN1 Rebecca Foulger Source Expert Review Red was added to JAGN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 IVD Rebecca Foulger Source Expert Review Red was added to IVD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ITGA7 Rebecca Foulger Source Expert Review Red was added to ITGA7.
Publications for gene ITGA7 were changed from to 9590299
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 IKBKG Rebecca Foulger Mode of inheritance for gene IKBKG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.135 IGSF1 Rebecca Foulger Source Expert Review Red was added to IGSF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HYAL1 Rebecca Foulger Source Expert Review Red was added to HYAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HSD3B7 Rebecca Foulger Source Expert Review Red was added to HSD3B7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HSD17B10 Rebecca Foulger Source Expert Review Red was added to HSD17B10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPS1 Rebecca Foulger Source Expert Review Red was added to HPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPRT1 Rebecca Foulger Source Expert Review Red was added to HPRT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPGD Rebecca Foulger Source Expert Review Red was added to HPGD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HOXC13 Rebecca Foulger Source Expert Review Red was added to HOXC13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HNRNPU Rebecca Foulger Source Expert Review Red was added to HNRNPU.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HMGCS2 Rebecca Foulger Source Expert Review Red was added to HMGCS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HMGCL Rebecca Foulger Source Expert Review Red was added to HMGCL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HLCS Rebecca Foulger Source Expert Review Red was added to HLCS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HINT1 Rebecca Foulger Source Expert Review Red was added to HINT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HGSNAT Rebecca Foulger Source Expert Review Red was added to HGSNAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HEXB Rebecca Foulger Source Expert Review Red was added to HEXB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HEXA Rebecca Foulger Source Expert Review Red was added to HEXA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HECW2 Rebecca Foulger Source Expert Review Red was added to HECW2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HDAC4 Rebecca Foulger Source Expert Review Red was added to HDAC4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HCN1 Rebecca Foulger Source Expert Review Red was added to HCN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HCFC1 Rebecca Foulger Source Expert Review Red was added to HCFC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HAX1 Rebecca Foulger Source Expert Review Red was added to HAX1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HADH Rebecca Foulger Source Expert Review Red was added to HADH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HACE1 Rebecca Foulger Source Expert Review Red was added to HACE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRM6 Rebecca Foulger Source Expert Review Red was added to GRM6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIN2A Rebecca Foulger Source Expert Review Red was added to GRIN2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIK2 Rebecca Foulger Source Expert Review Red was added to GRIK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIA3 Rebecca Foulger Source Expert Review Red was added to GRIA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GMPPA Rebecca Foulger Source Expert Review Red was added to GMPPA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GLUD1 Rebecca Foulger Source Expert Review Red was added to GLUD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GJB2 Rebecca Foulger Mode of inheritance for gene GJB2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.135 GHR Rebecca Foulger Source Expert Review Red was added to GHR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GDI1 Rebecca Foulger Source Expert Review Red was added to GDI1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GCH1 Rebecca Foulger Source Expert Review Red was added to GCH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GCDH Rebecca Foulger Source Expert Review Red was added to GCDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GATM Rebecca Foulger Source Expert Review Red was added to GATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GATAD2B Rebecca Foulger Source Expert Review Red was added to GATAD2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GAMT Rebecca Foulger Source Expert Review Red was added to GAMT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALT Rebecca Foulger Source Expert Review Red was added to GALT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALK1 Rebecca Foulger Source Expert Review Red was added to GALK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALE Rebecca Foulger Source Expert Review Red was added to GALE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALC Rebecca Foulger Source Expert Review Red was added to GALC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GABRB3 Rebecca Foulger Source Expert Review Red was added to GABRB3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FZD6 Rebecca Foulger Source Expert Review Red was added to FZD6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTSJ1 Rebecca Foulger Source Expert Review Red was added to FTSJ1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTL Rebecca Foulger Source Expert Review Red was added to FTL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTCD Rebecca Foulger Source Expert Review Red was added to FTCD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FRMD7 Rebecca Foulger Source Expert Review Red was added to FRMD7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXP1 Rebecca Foulger Source Expert Review Red was added to FOXP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXN1 Rebecca Foulger Source Expert Review Red was added to FOXN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXG1 Rebecca Foulger Source Expert Review Red was added to FOXG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FLVCR1 Rebecca Foulger Source Expert Review Red was added to FLVCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FLAD1 Rebecca Foulger Source Expert Review Red was added to FLAD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FKTN Rebecca Foulger Source Expert Review Red was added to FKTN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FHL1 Rebecca Foulger Source Expert Review Red was added to FHL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FH Rebecca Foulger Source Expert Review Red was added to FH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FGF12 Rebecca Foulger Source Expert Review Red was added to FGF12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FBP1 Rebecca Foulger Source Expert Review Red was added to FBP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ETHE1 Rebecca Foulger Source Expert Review Red was added to ETHE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ERCC6L2 Rebecca Foulger Source Expert Review Red was added to ERCC6L2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ENPP1 Rebecca Foulger Source Expert Review Red was added to ENPP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 EGR2 Rebecca Foulger Source Expert Review Red was added to EGR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DSPP Rebecca Foulger Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DPAGT1 Rebecca Foulger Source Expert Review Red was added to DPAGT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DOCK8 Rebecca Foulger Source Expert Review Red was added to DOCK8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DNMT3B Rebecca Foulger Source Expert Review Red was added to DNMT3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DNMT3A Rebecca Foulger Source Expert Review Red was added to DNMT3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DMP1 Rebecca Foulger Source Expert Review Red was added to DMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DLG3 Rebecca Foulger Source Expert Review Red was added to DLG3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DEPDC5 Rebecca Foulger Source Expert Review Red was added to DEPDC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDOST Rebecca Foulger Source Expert Review Red was added to DDOST.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDHD1 Rebecca Foulger Source Expert Review Red was added to DDHD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDC Rebecca Foulger Source Expert Review Red was added to DDC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDB2 Rebecca Foulger Source Expert Review Red was added to DDB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DBT Rebecca Foulger Source Expert Review Red was added to DBT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CYP1B1 Rebecca Foulger Source Expert Review Red was added to CYP1B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CYC1 Rebecca Foulger Source Expert Review Red was added to CYC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CTSA Rebecca Foulger Publications for gene CTSA were changed from to 7759227
Fetal anomalies v0.135 CTNS Rebecca Foulger Source Expert Review Red was added to CTNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CTNNB1 Rebecca Foulger Publications for gene CTNNB1 were changed from to 27915094
Fetal anomalies v0.135 CSTB Rebecca Foulger Source Expert Review Red was added to CSTB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CRX Rebecca Foulger Source Expert Review Red was added to CRX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CRB1 Rebecca Foulger Source Expert Review Red was added to CRB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CPS1 Rebecca Foulger Source Expert Review Red was added to CPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COMP Rebecca Foulger Source Expert Review Red was added to COMP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL9A3 Rebecca Foulger Source Expert Review Red was added to COL9A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL4A4 Rebecca Foulger Source Expert Review Red was added to COL4A4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL4A3 Rebecca Foulger Source Expert Review Red was added to COL4A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COG8 Rebecca Foulger Publications for gene COG8 were changed from to 30690882
Fetal anomalies v0.135 CLN8 Rebecca Foulger Source Expert Review Red was added to CLN8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLN5 Rebecca Foulger Source Expert Review Red was added to CLN5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLN3 Rebecca Foulger Source Expert Review Red was added to CLN3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLDN19 Rebecca Foulger Source Expert Review Red was added to CLDN19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CIB2 Rebecca Foulger Source Expert Review Red was added to CIB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHRNA4 Rebecca Foulger Source Expert Review Red was added to CHRNA4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHRDL1 Rebecca Foulger Source Expert Review Red was added to CHRDL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHD2 Rebecca Foulger Source Expert Review Red was added to CHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CCDC115 Rebecca Foulger Source Expert Review Red was added to CCDC115.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CC2D1A Rebecca Foulger Source Expert Review Red was added to CC2D1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CBS Rebecca Foulger Source Expert Review Red was added to CBS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CAD Rebecca Foulger Source Expert Review Red was added to CAD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 C4orf26 Rebecca Foulger Source Expert Review Red was added to C4orf26.
Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 C2orf71 Rebecca Foulger Source Expert Review Red was added to C2orf71.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BRWD3 Rebecca Foulger Source Expert Review Red was added to BRWD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BICD2 Rebecca Foulger Source Expert Review Red was added to BICD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BFSP2 Rebecca Foulger Source Expert Review Red was added to BFSP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BCKDHB Rebecca Foulger Source Expert Review Red was added to BCKDHB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BCKDHA Rebecca Foulger Source Expert Review Red was added to BCKDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATP8B1 Rebecca Foulger Source Expert Review Red was added to ATP8B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATP6V1B1 Rebecca Foulger Source Expert Review Red was added to ATP6V1B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATM Rebecca Foulger Source Expert Review Red was added to ATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ASL Rebecca Foulger Source Expert Review Red was added to ASL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ARG1 Rebecca Foulger Source Expert Review Red was added to ARG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 APTX Rebecca Foulger Source Expert Review Red was added to APTX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 APOPT1 Rebecca Foulger Source Expert Review Red was added to APOPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALS2 Rebecca Foulger Source Expert Review Red was added to ALS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALDH5A1 Rebecca Foulger Source Expert Review Red was added to ALDH5A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALDH4A1 Rebecca Foulger Source Expert Review Red was added to ALDH4A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AKR1D1 Rebecca Foulger Source Expert Review Red was added to AKR1D1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AK2 Rebecca Foulger Source Expert Review Red was added to AK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AIPL1 Rebecca Foulger Source Expert Review Red was added to AIPL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AGA Rebecca Foulger Source Expert Review Red was added to AGA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AFF2 Rebecca Foulger Source Expert Review Red was added to AFF2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ADA Rebecca Foulger Source Expert Review Red was added to ADA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACOX1 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 for gene: ACOX1
Fetal anomalies v0.135 ACAT1 Rebecca Foulger Source Expert Review Red was added to ACAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACADM Rebecca Foulger Source Expert Review Red was added to ACADM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACAD9 Rebecca Foulger Publications for gene ACAD9 were changed from to 26475292
Fetal anomalies v0.135 ABCB7 Rebecca Foulger Source Expert Review Red was added to ABCB7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ABCB11 Rebecca Foulger Source Expert Review Red was added to ABCB11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 TNXB Rebecca Foulger Source Expert Review Red was added to TNXB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SP110 Rebecca Foulger Source Expert Review Red was added to SP110.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SOST Rebecca Foulger Mode of inheritance for gene SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 for gene: SOST
Fetal anomalies v0.135 SGCA Rebecca Foulger Source Expert Review Red was added to SGCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SELENON Rebecca Foulger Source Expert Review Red was added to SELENON.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MSH6 Rebecca Foulger Mode of inheritance for gene MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 MSH2 Rebecca Foulger Mode of inheritance for gene MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 MLH1 Rebecca Foulger Mode of inheritance for gene MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 GRIP1 Rebecca Foulger Publications for gene GRIP1 were changed from to 22510445
Fetal anomalies v0.135 COL5A2 Rebecca Foulger Source Expert Review Red was added to COL5A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL5A1 Rebecca Foulger Source Expert Review Red was added to COL5A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CAVIN1 Rebecca Foulger Source Expert Review Red was added to CAVIN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AP3B1 Rebecca Foulger Source Expert Review Red was added to AP3B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AGRN Rebecca Foulger Source Expert Review Red was added to AGRN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 NYX Rebecca Foulger edited their review of gene: NYX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NYX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYCN Rebecca Foulger edited their review of gene: MYCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NUP107 Rebecca Foulger edited their review of gene: NUP107: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NUBPL Rebecca Foulger edited their review of gene: NUBPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NTRK1 Rebecca Foulger edited their review of gene: NTRK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NTRK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NT5C3A Rebecca Foulger edited their review of gene: NT5C3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NT5C3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NSDHL Rebecca Foulger edited their review of gene: NSDHL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NSD1 Rebecca Foulger edited their review of gene: NSD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NRAS Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR2F2 Rebecca Foulger edited their review of gene: NR2F2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR2F1 Rebecca Foulger edited their review of gene: NR2F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NR2F1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPR2 Rebecca Foulger edited their review of gene: NPR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHS2 Rebecca Foulger edited their review of gene: NPHS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPHS1 Rebecca Foulger edited their review of gene: NPHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHP4 Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHP4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPHP3 Rebecca Foulger edited their review of gene: NPHP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHP1 Rebecca Foulger edited their review of gene: NPHP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPC2 Rebecca Foulger edited their review of gene: NPC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPC1 Rebecca Foulger edited their review of gene: NPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NOTCH2 Rebecca Foulger edited their review of gene: NOTCH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NOG Rebecca Foulger edited their review of gene: NOG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NODAL Rebecca Foulger edited their review of gene: NODAL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NMNAT1 Rebecca Foulger edited their review of gene: NMNAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NMNAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NKX3-2 Rebecca Foulger edited their review of gene: NKX3-2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NKX2-5 Rebecca Foulger edited their review of gene: NKX2-5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NKX2-1 Rebecca Foulger edited their review of gene: NKX2-1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include: septal defect in some patients. Action taken: Demoted NKX2-1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NHS Rebecca Foulger edited their review of gene: NHS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NGLY1 Rebecca Foulger edited their review of gene: NGLY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NGLY1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NFIX Rebecca Foulger edited their review of gene: NFIX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NF1 Rebecca Foulger edited their review of gene: NF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEU1 Rebecca Foulger edited their review of gene: NEU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEK1 Rebecca Foulger edited their review of gene: NEK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NECTIN4 Rebecca Foulger edited their review of gene: NECTIN4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NDP Rebecca Foulger edited their review of gene: NDP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NDP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NDE1 Rebecca Foulger edited their review of gene: NDE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NBN Rebecca Foulger edited their review of gene: NBN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NBAS Rebecca Foulger edited their review of gene: NBAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NANS Rebecca Foulger edited their review of gene: NANS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NALCN Rebecca Foulger edited their review of gene: NALCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NAGS Rebecca Foulger edited their review of gene: NAGS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NAGS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NAGA Rebecca Foulger edited their review of gene: NAGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NACC1 Rebecca Foulger edited their review of gene: NACC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NAA10 Rebecca Foulger edited their review of gene: NAA10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYT1L Rebecca Foulger edited their review of gene: MYT1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYT1L gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYO5B Rebecca Foulger edited their review of gene: MYO5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYO5A Rebecca Foulger edited their review of gene: MYO5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYH9 Rebecca Foulger edited their review of gene: MYH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could potentially have a bleed in utero.; Changed rating: GREEN
Fetal anomalies v0.134 MUT Rebecca Foulger edited their review of gene: MUT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MUT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTRR Rebecca Foulger edited their review of gene: MTRR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTRR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTR Rebecca Foulger edited their review of gene: MTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTOR Rebecca Foulger edited their review of gene: MTOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTO1 Rebecca Foulger edited their review of gene: MTO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTM1 Rebecca Foulger edited their review of gene: MTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTHFR Rebecca Foulger edited their review of gene: MTHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTHFR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MSX2 Rebecca Foulger edited their review of gene: MSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSX1 Rebecca Foulger edited their review of gene: MSX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSL3 Rebecca Foulger edited their review of gene: MSL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.; Changed rating: GREEN; Changed publications: 30224647
Fetal anomalies v0.134 MRE11 Rebecca Foulger edited their review of gene: MRE11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MRE11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MPLKIP Rebecca Foulger edited their review of gene: MPLKIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Rare structural associations.; Changed rating: GREEN
Fetal anomalies v0.134 MPI Rebecca Foulger edited their review of gene: MPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MPI gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MPDU1 Rebecca Foulger edited their review of gene: MPDU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MOCS2 Rebecca Foulger edited their review of gene: MOCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MOCS1 Rebecca Foulger edited their review of gene: MOCS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MNX1 Rebecca Foulger edited their review of gene: MNX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMP21 Rebecca Foulger edited their review of gene: MMP21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMP13 Rebecca Foulger edited their review of gene: MMP13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMADHC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMACHC gene rating from Green to Red. Additional notes from clinical review: Hydrocephalus is probably secondary phenotype.; Changed rating: RED
Fetal anomalies v0.134 MMAB Rebecca Foulger edited their review of gene: MMAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MMAA Rebecca Foulger edited their review of gene: MMAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MLYCD Rebecca Foulger edited their review of gene: MLYCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MLC1 Rebecca Foulger edited their review of gene: MLC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MKS1 Rebecca Foulger edited their review of gene: MKS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MKKS Rebecca Foulger edited their review of gene: MKKS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MICU1 Rebecca Foulger edited their review of gene: MICU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MICU1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MGP Rebecca Foulger edited their review of gene: MGP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MGAT2 Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 MFSD8 Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MFSD2A Rebecca Foulger edited their review of gene: MFSD2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MFRP Rebecca Foulger edited their review of gene: MFRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MESP2 Rebecca Foulger edited their review of gene: MESP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormal vertebrae.; Changed rating: GREEN
Fetal anomalies v0.134 MEGF8 Rebecca Foulger edited their review of gene: MEGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MEGF10 Rebecca Foulger edited their review of gene: MEGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MEF2C Rebecca Foulger edited their review of gene: MEF2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural brain phenotypes.; Changed rating: GREEN
Fetal anomalies v0.134 MED12 Rebecca Foulger edited their review of gene: MED12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MECP2 Rebecca Foulger edited their review of gene: MECP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MECP2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MCPH1 Rebecca Foulger edited their review of gene: MCPH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Primary microcephaly.; Changed rating: GREEN
Fetal anomalies v0.134 MCOLN1 Rebecca Foulger edited their review of gene: MCOLN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Dysplastic corpus callosum.; Changed rating: GREEN
Fetal anomalies v0.134 MCEE Rebecca Foulger edited their review of gene: MCEE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCEE gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MCCC2 Rebecca Foulger edited their review of gene: MCCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MCCC1 Rebecca Foulger edited their review of gene: MCCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MC2R Rebecca Foulger edited their review of gene: MC2R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MC2R gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MATN3 Rebecca Foulger edited their review of gene: MATN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MASP1 Rebecca Foulger edited their review of gene: MASP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAPRE2 Rebecca Foulger edited their review of gene: MAPRE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAP3K1 Rebecca Foulger edited their review of gene: MAP3K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAP2K2 Rebecca Foulger edited their review of gene: MAP2K2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAP2K1 Rebecca Foulger edited their review of gene: MAP2K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAF Rebecca Foulger edited their review of gene: MAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAB21L2 Rebecca Foulger edited their review of gene: MAB21L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LYST Rebecca Foulger edited their review of gene: LYST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Potentially hydrops.; Changed rating: GREEN
Fetal anomalies v0.134 LTBP3 Rebecca Foulger edited their review of gene: LTBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LTBP2 Rebecca Foulger edited their review of gene: LTBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LTBP2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 LRRC6 Rebecca Foulger edited their review of gene: LRRC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LRP5 Rebecca Foulger edited their review of gene: LRP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel with biallelic mode of inheritance only. Action taken: Changed mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 LRP2 Rebecca Foulger edited their review of gene: LRP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LMX1B Rebecca Foulger edited their review of gene: LMX1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LMBRD1 Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LMBRD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 LIG4 Rebecca Foulger edited their review of gene: LIG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Microcephaly.; Changed rating: GREEN
Fetal anomalies v0.134 LHX4 Rebecca Foulger edited their review of gene: LHX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormalities of the sella turcica; Changed rating: GREEN
Fetal anomalies v0.134 LHX3 Rebecca Foulger edited their review of gene: LHX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Small pituitary.; Changed rating: GREEN
Fetal anomalies v0.134 LFNG Rebecca Foulger edited their review of gene: LFNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LEMD3 Rebecca Foulger edited their review of gene: LEMD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LEMD3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 LBR Rebecca Foulger edited their review of gene: LBR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LARP7 Rebecca Foulger edited their review of gene: LARP7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LARGE1 Rebecca Foulger edited their review of gene: LARGE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LAMC3 Rebecca Foulger edited their review of gene: LAMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LAMA2 Rebecca Foulger edited their review of gene: LAMA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LAMA1 Rebecca Foulger edited their review of gene: LAMA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 L2HGDH Rebecca Foulger edited their review of gene: L2HGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KRAS Rebecca Foulger edited their review of gene: KRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KMT5B Rebecca Foulger edited their review of gene: KMT5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Single report of talipes. Action taken: Demoted KMT5B gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 KMT2A Rebecca Foulger edited their review of gene: KMT2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KLHL40 Rebecca Foulger edited their review of gene: KLHL40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KLF1 Rebecca Foulger edited their review of gene: KLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hydrops.; Changed rating: GREEN
Fetal anomalies v0.134 KIF7 Rebecca Foulger edited their review of gene: KIF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF22 Rebecca Foulger edited their review of gene: KIF22: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF1BP Rebecca Foulger edited their review of gene: KIF1BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF1A Rebecca Foulger edited their review of gene: KIF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF11 Rebecca Foulger edited their review of gene: KIF11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIAA0586 Rebecca Foulger edited their review of gene: KIAA0586: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KDM6A Rebecca Foulger edited their review of gene: KDM6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KDM5C Rebecca Foulger edited their review of gene: KDM5C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KCNQ2 Rebecca Foulger edited their review of gene: KCNQ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNQ2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KCNC1 Rebecca Foulger edited their review of gene: KCNC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KCNB1 Rebecca Foulger edited their review of gene: KCNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNB1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KCNA2 Rebecca Foulger edited their review of gene: KCNA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNA2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KAT6B Rebecca Foulger edited their review of gene: KAT6B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KAT6A Rebecca Foulger edited their review of gene: KAT6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KANSL1 Rebecca Foulger edited their review of gene: KANSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 JAK3 Rebecca Foulger edited their review of gene: JAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAK3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 JAGN1 Rebecca Foulger edited their review of gene: JAGN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAGN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 JAG1 Rebecca Foulger edited their review of gene: JAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IVD Rebecca Foulger edited their review of gene: IVD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IVD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ITGA7 Rebecca Foulger edited their review of gene: ITGA7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ITGA7 gene rating from Green to Red.; Changed rating: RED; Changed publications: 9590299
Fetal anomalies v0.134 ITGA3 Rebecca Foulger edited their review of gene: ITGA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ISPD Rebecca Foulger edited their review of gene: ISPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IRF6 Rebecca Foulger edited their review of gene: IRF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INPPL1 Rebecca Foulger edited their review of gene: INPPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INPP5E Rebecca Foulger edited their review of gene: INPP5E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IMPAD1 Rebecca Foulger edited their review of gene: IMPAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IL1RAPL1 Rebecca Foulger edited their review of gene: IL1RAPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IKBKG Rebecca Foulger edited their review of gene: IKBKG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both XLD and XLR modes of inheritance; although there is less evidence for structural features with XLR, there are some reports.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 IHH Rebecca Foulger edited their review of gene: IHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IGSF1 Rebecca Foulger edited their review of gene: IGSF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IGSF1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 IGF2 Rebecca Foulger edited their review of gene: IGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT80 Rebecca Foulger edited their review of gene: IFT80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT43 Rebecca Foulger edited their review of gene: IFT43: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT172 Rebecca Foulger edited their review of gene: IFT172: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT140 Rebecca Foulger edited their review of gene: IFT140: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT122 Rebecca Foulger edited their review of gene: IFT122: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFITM5 Rebecca Foulger edited their review of gene: IFITM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IDS Rebecca Foulger edited their review of gene: IDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HYLS1 Rebecca Foulger edited their review of gene: HYLS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HYAL1 Rebecca Foulger edited their review of gene: HYAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HYAL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HUWE1 Rebecca Foulger edited their review of gene: HUWE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSPG2 Rebecca Foulger edited their review of gene: HSPG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSF4 Rebecca Foulger edited their review of gene: HSF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSD3B7 Rebecca Foulger edited their review of gene: HSD3B7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD3B7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HSD17B4 Rebecca Foulger edited their review of gene: HSD17B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSD17B10 Rebecca Foulger edited their review of gene: HSD17B10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD17B10 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HR Rebecca Foulger edited their review of gene: HR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HPSE2 Rebecca Foulger edited their review of gene: HPSE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HPS1 Rebecca Foulger edited their review of gene: HPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPS1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HPRT1 Rebecca Foulger edited their review of gene: HPRT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPRT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HPGD Rebecca Foulger edited their review of gene: HPGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPGD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HOXD13 Rebecca Foulger edited their review of gene: HOXD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HOXC13 Rebecca Foulger edited their review of gene: HOXC13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HOXC13 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HOXA13 Rebecca Foulger edited their review of gene: HOXA13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HOXA1 Rebecca Foulger edited their review of gene: HOXA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HNRNPU Rebecca Foulger edited their review of gene: HNRNPU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HNRNPU gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HNF4A Rebecca Foulger edited their review of gene: HNF4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HNF1B Rebecca Foulger edited their review of gene: HNF1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HMGCS2 Rebecca Foulger edited their review of gene: HMGCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HMGCL Rebecca Foulger edited their review of gene: HMGCL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HLCS Rebecca Foulger edited their review of gene: HLCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HLCS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HIVEP2 Rebecca Foulger edited their review of gene: HIVEP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HINT1 Rebecca Foulger edited their review of gene: HINT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HINT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HIBCH Rebecca Foulger edited their review of gene: HIBCH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HGSNAT Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HGSNAT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HEXB Rebecca Foulger edited their review of gene: HEXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HEXA Rebecca Foulger edited their review of gene: HEXA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HECW2 Rebecca Foulger edited their review of gene: HECW2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HECW2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HDAC8 Rebecca Foulger edited their review of gene: HDAC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HDAC4 Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HDAC4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HCN1 Rebecca Foulger edited their review of gene: HCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HCFC1 Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCFC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HAX1 Rebecca Foulger edited their review of gene: HAX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HAX1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HADHA Rebecca Foulger edited their review of gene: HADHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HADH Rebecca Foulger edited their review of gene: HADH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HADH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HACE1 Rebecca Foulger edited their review of gene: HACE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HACE1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GUSB Rebecca Foulger edited their review of gene: GUSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GUCY2C Rebecca Foulger edited their review of gene: GUCY2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GTPBP3 Rebecca Foulger edited their review of gene: GTPBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GTF2H5 Rebecca Foulger edited their review of gene: GTF2H5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRM6 Rebecca Foulger edited their review of gene: GRM6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRM6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRIN2B Rebecca Foulger edited their review of gene: GRIN2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRIN2A Rebecca Foulger edited their review of gene: GRIN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIN2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRIN1 Rebecca Foulger edited their review of gene: GRIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRIK2 Rebecca Foulger edited their review of gene: GRIK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIK2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRIA3 Rebecca Foulger edited their review of gene: GRIA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIA3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRHL3 Rebecca Foulger edited their review of gene: GRHL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GPSM2 Rebecca Foulger edited their review of gene: GPSM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GPC3 Rebecca Foulger edited their review of gene: GPC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GORAB Rebecca Foulger edited their review of gene: GORAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNS Rebecca Foulger edited their review of gene: GNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNPTG Rebecca Foulger edited their review of gene: GNPTG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNPTAB Rebecca Foulger edited their review of gene: GNPTAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNPAT Rebecca Foulger edited their review of gene: GNPAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNB1 Rebecca Foulger edited their review of gene: GNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNAS Rebecca Foulger edited their review of gene: GNAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNAO1 Rebecca Foulger edited their review of gene: GNAO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May detect thin corpus callosum pre-natally.; Changed rating: GREEN
Fetal anomalies v0.134 GNAI3 Rebecca Foulger edited their review of gene: GNAI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GMPPB Rebecca Foulger edited their review of gene: GMPPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GMPPA Rebecca Foulger edited their review of gene: GMPPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GMPPA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GLUL Rebecca Foulger edited their review of gene: GLUL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLUD1 Rebecca Foulger edited their review of gene: GLUD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted GLUD1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GLIS3 Rebecca Foulger edited their review of gene: GLIS3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLI3 Rebecca Foulger edited their review of gene: GLI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLI2 Rebecca Foulger edited their review of gene: GLI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLE1 Rebecca Foulger edited their review of gene: GLE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLDC Rebecca Foulger edited their review of gene: GLDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Absent corpus callosumis a variable phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 GJC2 Rebecca Foulger edited their review of gene: GJC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Onset of Lymphatic malformation 3 can be at birth (monoallelic mode of inheritance). Action taken: Kept mode of inheritance as 'both monoallelic and biallelic' on advice from Lyn Chitty.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 GJB2 Rebecca Foulger edited their review of gene: GJB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel on basis of possible congenital digit constrictions and no harm done. Change MOI to monoallelic only: Recessive inheritance is attributed to the deafness phenotype, which would not be detected prenatally. Action taken: Changed mode of inheritance from 'both biallelic and monoallelic' to 'monoallelic' only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.134 GJA8 Rebecca Foulger edited their review of gene: GJA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 GJA3 Rebecca Foulger edited their review of gene: GJA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 GJA1 Rebecca Foulger edited their review of gene: GJA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with monoallelic (Atrioventricular septal defects) and biallelic (Hypoplastic left heart syndrome 1) inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 GHR Rebecca Foulger edited their review of gene: GHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Baby is normal size at birth and fails to grow afterwards, so not detectable prenatally. Action taken: Demoted GHR gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GFM1 Rebecca Foulger edited their review of gene: GFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Enough structural features.; Changed rating: GREEN
Fetal anomalies v0.134 GFAP Rebecca Foulger edited their review of gene: GFAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GDI1 Rebecca Foulger edited their review of gene: GDI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No associated structural phenotypes. Action taken: Demoted GDI1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GDF6 Rebecca Foulger edited their review of gene: GDF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GDF5 Rebecca Foulger edited their review of gene: GDF5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GCH1 Rebecca Foulger edited their review of gene: GCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCH1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GCDH Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCDH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GATM Rebecca Foulger edited their review of gene: GATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATM gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GATAD2B Rebecca Foulger edited their review of gene: GATAD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATAD2B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GATA6 Rebecca Foulger edited their review of gene: GATA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GATA4 Rebecca Foulger edited their review of gene: GATA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GAMT Rebecca Foulger edited their review of gene: GAMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GAMT gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GALT Rebecca Foulger edited their review of gene: GALT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GALT gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GALNS Rebecca Foulger edited their review of gene: GALNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GALK1 Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Just cataracts, preventable with early dietary management so not detectable prentally. Action taken: Demoted GALK1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GALE Rebecca Foulger edited their review of gene: GALE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALE gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GALC Rebecca Foulger edited their review of gene: GALC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GABRB3 Rebecca Foulger edited their review of gene: GABRB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early Infantile Epileptic encephalopathy (EIEE) but no structural phenotypes. Action taken: Demoted GABRB3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FZD6 Rebecca Foulger edited their review of gene: FZD6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FZD6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FYCO1 Rebecca Foulger edited their review of gene: FYCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FTSJ1 Rebecca Foulger edited their review of gene: FTSJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No additional structural features. Action taken: Demoted FTSJ1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FTL Rebecca Foulger edited their review of gene: FTL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FTCD Rebecca Foulger edited their review of gene: FTCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTCD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FRMD7 Rebecca Foulger edited their review of gene: FRMD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FRMD7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FREM2 Rebecca Foulger edited their review of gene: FREM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FREM1 Rebecca Foulger edited their review of gene: FREM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FRAS1 Rebecca Foulger edited their review of gene: FRAS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXRED1 Rebecca Foulger edited their review of gene: FOXRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXP1 Rebecca Foulger edited their review of gene: FOXP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FOXN1 Rebecca Foulger edited their review of gene: FOXN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FOXG1 Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotypes only. Action taken: Demoted FOXG1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FOXF1 Rebecca Foulger edited their review of gene: FOXF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXE3 Rebecca Foulger edited their review of gene: FOXE3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXE1 Rebecca Foulger edited their review of gene: FOXE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXC2 Rebecca Foulger edited their review of gene: FOXC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXC1 Rebecca Foulger edited their review of gene: FOXC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOLR1 Rebecca Foulger edited their review of gene: FOLR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLVCR2 Rebecca Foulger edited their review of gene: FLVCR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLVCR1 Rebecca Foulger edited their review of gene: FLVCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FLVCR1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FLNB Rebecca Foulger edited their review of gene: FLNB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLAD1 Rebecca Foulger edited their review of gene: FLAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable prenatally. Action taken: Demoted FLAD1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FKTN Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FKTN gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FKRP Rebecca Foulger edited their review of gene: FKRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FKBP14 Rebecca Foulger edited their review of gene: FKBP14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FHL1 Rebecca Foulger edited their review of gene: FHL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Adult onset. Action taken: Demoted FHL1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FH Rebecca Foulger edited their review of gene: FH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FGFR1 Rebecca Foulger edited their review of gene: FGFR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGF3 Rebecca Foulger edited their review of gene: FGF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGF12 Rebecca Foulger edited their review of gene: FGF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early brain imaging is normal. Action taken: Demoted FGF12 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FGF10 Rebecca Foulger edited their review of gene: FGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGD1 Rebecca Foulger edited their review of gene: FGD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FBXL4 Rebecca Foulger edited their review of gene: FBXL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FBP1 Rebecca Foulger edited their review of gene: FBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FBN2 Rebecca Foulger edited their review of gene: FBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAT4 Rebecca Foulger edited their review of gene: FAT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAR1 Rebecca Foulger edited their review of gene: FAR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCI Rebecca Foulger edited their review of gene: FANCI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCG Rebecca Foulger edited their review of gene: FANCG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCF Rebecca Foulger edited their review of gene: FANCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCE Rebecca Foulger edited their review of gene: FANCE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCD2 Rebecca Foulger edited their review of gene: FANCD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCC Rebecca Foulger edited their review of gene: FANCC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCA Rebecca Foulger edited their review of gene: FANCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM58A Rebecca Foulger edited their review of gene: FAM58A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM20C Rebecca Foulger edited their review of gene: FAM20C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM20A Rebecca Foulger edited their review of gene: FAM20A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM126A Rebecca Foulger edited their review of gene: FAM126A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM111A Rebecca Foulger edited their review of gene: FAM111A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAH Rebecca Foulger edited their review of gene: FAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EZH2 Rebecca Foulger edited their review of gene: EZH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EYA1 Rebecca Foulger edited their review of gene: EYA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EXT2 Rebecca Foulger edited their review of gene: EXT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EXT1 Rebecca Foulger edited their review of gene: EXT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EXOSC3 Rebecca Foulger edited their review of gene: EXOSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EVC Rebecca Foulger edited their review of gene: EVC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ETHE1 Rebecca Foulger edited their review of gene: ETHE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ETHE1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ETFDH Rebecca Foulger edited their review of gene: ETFDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ETFB Rebecca Foulger edited their review of gene: ETFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ETFA Rebecca Foulger edited their review of gene: ETFA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ESCO2 Rebecca Foulger edited their review of gene: ESCO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERF Rebecca Foulger edited their review of gene: ERF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC8 Rebecca Foulger edited their review of gene: ERCC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC6L2 Rebecca Foulger edited their review of gene: ERCC6L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ERCC6L2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ERCC6 Rebecca Foulger edited their review of gene: ERCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC3 Rebecca Foulger edited their review of gene: ERCC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC2 Rebecca Foulger edited their review of gene: ERCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EPG5 Rebecca Foulger edited their review of gene: EPG5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EP300 Rebecca Foulger edited their review of gene: EP300: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EOGT Rebecca Foulger edited their review of gene: EOGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ENPP1 Rebecca Foulger edited their review of gene: ENPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable in utero. Action taken: Demoted ENPP1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ELOVL4 Rebecca Foulger edited their review of gene: ELOVL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ELN Rebecca Foulger edited their review of gene: ELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ELAC2 Rebecca Foulger edited their review of gene: ELAC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance to avoid picking up susceptibility to prostate cancer as an incidental finding.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 EIF4A3 Rebecca Foulger edited their review of gene: EIF4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EIF2AK3 Rebecca Foulger edited their review of gene: EIF2AK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EHMT1 Rebecca Foulger edited their review of gene: EHMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EGR2 Rebecca Foulger edited their review of gene: EGR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted EGR2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 EFTUD2 Rebecca Foulger edited their review of gene: EFTUD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EFNB1 Rebecca Foulger edited their review of gene: EFNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EDNRB Rebecca Foulger edited their review of gene: EDNRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EDNRA Rebecca Foulger edited their review of gene: EDNRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EDA Rebecca Foulger edited their review of gene: EDA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ECEL1 Rebecca Foulger edited their review of gene: ECEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EBP Rebecca Foulger edited their review of gene: EBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EBF3 Rebecca Foulger edited their review of gene: EBF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYRK1A Rebecca Foulger edited their review of gene: DYRK1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYNC1H1 Rebecca Foulger edited their review of gene: DYNC1H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYM Rebecca Foulger edited their review of gene: DYM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DVL3 Rebecca Foulger edited their review of gene: DVL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DVL1 Rebecca Foulger edited their review of gene: DVL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DSTYK Rebecca Foulger edited their review of gene: DSTYK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DSPP Rebecca Foulger edited their review of gene: DSPP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DSPP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DPM1 Rebecca Foulger edited their review of gene: DPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DPAGT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DOLK Rebecca Foulger edited their review of gene: DOLK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DOCK8 Rebecca Foulger edited their review of gene: DOCK8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DOCK8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DNAAF4 Rebecca Foulger edited their review of gene: DNAAF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DNAAF3 Rebecca Foulger edited their review of gene: DNAAF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DMPK Rebecca Foulger edited their review of gene: DMPK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Note of caution that repeat expansion is clinically-relevant and not detectable on exome. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding.; Changed rating: GREEN
Fetal anomalies v0.134 DMP1 Rebecca Foulger edited their review of gene: DMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DMP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DLL4 Rebecca Foulger edited their review of gene: DLL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DLL3 Rebecca Foulger edited their review of gene: DLL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DLG3 Rebecca Foulger edited their review of gene: DLG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted DLG3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 DIS3L2 Rebecca Foulger edited their review of gene: DIS3L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DHODH Rebecca Foulger edited their review of gene: DHODH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DHFR Rebecca Foulger edited their review of gene: DHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable: can manage postnatally.; Changed rating: GREEN
Fetal anomalies v0.134 DHCR7 Rebecca Foulger edited their review of gene: DHCR7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Lots of phenotypes that would present prenatally including ambiguous genitalia.; Changed rating: GREEN
Fetal anomalies v0.134 DHCR24 Rebecca Foulger edited their review of gene: DHCR24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DEPDC5 Rebecca Foulger edited their review of gene: DEPDC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Epilepsy but no structural brain defects, so probably not detectable prenatally. Action taken: Demoted DEPDC5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDX11 Rebecca Foulger edited their review of gene: DDX11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital heart defects reported.; Changed rating: GREEN
Fetal anomalies v0.134 DDR2 Rebecca Foulger edited their review of gene: DDR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DDOST Rebecca Foulger edited their review of gene: DDOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDOST gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDHD1 Rebecca Foulger edited their review of gene: DDHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDHD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDC Rebecca Foulger edited their review of gene: DDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDB2 Rebecca Foulger edited their review of gene: DDB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDB2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DCX Rebecca Foulger edited their review of gene: DCX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DCHS1 Rebecca Foulger edited their review of gene: DCHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DBT Rebecca Foulger edited their review of gene: DBT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DBT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DARS Rebecca Foulger edited their review of gene: DARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear if the phenotype will present pre-natally, include on the panel due to thinning of the corpus callosumand it won't do any harm to include on the panel.; Changed rating: GREEN
Fetal anomalies v0.134 DAG1 Rebecca Foulger edited their review of gene: DAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural phenotypes; Changed rating: GREEN
Fetal anomalies v0.134 CYP2U1 Rebecca Foulger edited their review of gene: CYP2U1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Possibility of fetal phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 CYP1B1 Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No features beyond glaucoma. Action taken: Demoted CYP1B1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CYC1 Rebecca Foulger edited their review of gene: CYC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset of episodic lactic acidosis etc is in childhood. Action taken: Demoted CYC1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CUL7 Rebecca Foulger edited their review of gene: CUL7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Pre- and postnatal growth retardation reported.; Changed rating: GREEN
Fetal anomalies v0.134 CUL4B Rebecca Foulger edited their review of gene: CUL4B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CTSK Rebecca Foulger edited their review of gene: CTSK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Aplasia of clavicle reported amongst OMIM phenotypes.; Changed rating: GREEN
Fetal anomalies v0.134 CTSD Rebecca Foulger edited their review of gene: CTSD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can have very early onset in infancy (some reported patients died within days of birth).; Changed rating: GREEN
Fetal anomalies v0.134 CTSA Rebecca Foulger edited their review of gene: CTSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:7759227 (Landau et al, 1995) reports that galactosialidosis can cause non-immune hydrops.; Changed rating: GREEN; Changed publications: 7759227
Fetal anomalies v0.134 CTNS Rebecca Foulger edited their review of gene: CTNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CTNS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CTNNB1 Rebecca Foulger edited their review of gene: CTNNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Intrauterine growth restriction (IUGR) reported in 3 patients in PMID:27915094 (Table 1).; Changed rating: GREEN; Changed publications: 27915094
Fetal anomalies v0.134 CTCF Rebecca Foulger edited their review of gene: CTCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Some structural phenotypes.; Changed rating: GREEN
Fetal anomalies v0.134 CTC1 Rebecca Foulger edited their review of gene: CTC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: The phenotype is progressive, but include on the panel because it includes Intrauterine growth restriction (IUGR).; Changed rating: GREEN
Fetal anomalies v0.134 CSTB Rebecca Foulger edited their review of gene: CSTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CSTB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CSPP1 Rebecca Foulger edited their review of gene: CSPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CSNK2A1 Rebecca Foulger edited their review of gene: CSNK2A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRYGD Rebecca Foulger edited their review of gene: CRYGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYGC Rebecca Foulger edited their review of gene: CRYGC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBB3 Rebecca Foulger edited their review of gene: CRYBB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBB2 Rebecca Foulger edited their review of gene: CRYBB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBB1 Rebecca Foulger edited their review of gene: CRYBB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBA4 Rebecca Foulger edited their review of gene: CRYBA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBA1 Rebecca Foulger edited their review of gene: CRYBA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYAA Rebecca Foulger edited their review of gene: CRYAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both AD and AR modes of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 CRX Rebecca Foulger edited their review of gene: CRX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype presents later. Action taken: Demoted CRX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CREBBP Rebecca Foulger edited their review of gene: CREBBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Several dysmorphic features.; Changed rating: GREEN
Fetal anomalies v0.134 CRB2 Rebecca Foulger edited their review of gene: CRB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRB1 Rebecca Foulger edited their review of gene: CRB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Mainly retinal phenotype. You can see cataracts on a pre-natal scan but in this case the cataracts are progressive and appear later. Action taken: Demoted CRB1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CPS1 Rebecca Foulger edited their review of gene: CPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not detectable pre-natally- the baby would present normally but deterioriate quickly after. Action taken: Demoted CPS1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COX7B Rebecca Foulger edited their review of gene: COX7B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COMP Rebecca Foulger edited their review of gene: COMP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COMP gene rating from Green to Red. Additional notes from clinical review: Onset is later.; Changed rating: RED
Fetal anomalies v0.134 COLEC11 Rebecca Foulger edited their review of gene: COLEC11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL9A3 Rebecca Foulger edited their review of gene: COL9A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COL9A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL9A2 Rebecca Foulger edited their review of gene: COL9A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL9A1 Rebecca Foulger edited their review of gene: COL9A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL6A3 Rebecca Foulger edited their review of gene: COL6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL6A1 Rebecca Foulger edited their review of gene: COL6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL4A4 Rebecca Foulger edited their review of gene: COL4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COL4A4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL4A3BP Rebecca Foulger edited their review of gene: COL4A3BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL4A3 Rebecca Foulger edited their review of gene: COL4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant Action taken: Demoted COL4A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL18A1 Rebecca Foulger edited their review of gene: COL18A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL11A2 Rebecca Foulger edited their review of gene: COL11A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL11A1 Rebecca Foulger edited their review of gene: COL11A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL10A1 Rebecca Foulger edited their review of gene: COL10A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COG8 Rebecca Foulger edited their review of gene: COG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:30690882 reports the first antenatal case.; Changed rating: GREEN; Changed publications: 30690882
Fetal anomalies v0.134 COG7 Rebecca Foulger edited their review of gene: COG7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COG4 Rebecca Foulger edited their review of gene: COG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COG1 Rebecca Foulger edited their review of gene: COG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COASY Rebecca Foulger edited their review of gene: COASY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CNTNAP2 Rebecca Foulger edited their review of gene: CNTNAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CNOT3 Rebecca Foulger edited their review of gene: CNOT3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Polyhydramnios; Changed rating: GREEN
Fetal anomalies v0.134 CLPB Rebecca Foulger edited their review of gene: CLPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Presentation at birth/prenatal in severe forms.; Changed rating: GREEN
Fetal anomalies v0.134 CLN8 Rebecca Foulger edited their review of gene: CLN8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN8 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLN5 Rebecca Foulger edited their review of gene: CLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN5 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLN3 Rebecca Foulger edited their review of gene: CLN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Juvenile onset. Action taken: Demoted CLN3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLDN19 Rebecca Foulger edited their review of gene: CLDN19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not detectable prenatally (unlikely to see coloboma). Action taken: Demoted CLDN19 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLCN7 Rebecca Foulger edited their review of gene: CLCN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CKAP2L Rebecca Foulger edited their review of gene: CKAP2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotypes include cerebellar atrophy, Ventricular septal defect (VSD), Intrauterine growth restriction (IUGR) and microcephaly.; Changed rating: GREEN
Fetal anomalies v0.134 CIB2 Rebecca Foulger edited their review of gene: CIB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The phenotypes of deafness and Retinitis pigmentosa (part of Usher syndrome, type IJ) would not present prenatally. Action taken: Demoted CIB2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CHUK Rebecca Foulger edited their review of gene: CHUK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHSY1 Rebecca Foulger edited their review of gene: CHSY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHST3 Rebecca Foulger edited their review of gene: CHST3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHST14 Rebecca Foulger edited their review of gene: CHST14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause Arthrogryposis.; Changed rating: GREEN
Fetal anomalies v0.134 CHRNG Rebecca Foulger edited their review of gene: CHRNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHRNA4 Rebecca Foulger edited their review of gene: CHRNA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CHRNA4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CHRDL1 Rebecca Foulger edited their review of gene: CHRDL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The megalocornea phenotype would not be detected pre-natally. Action taken: Demoted CHRDL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CHD7 Rebecca Foulger edited their review of gene: CHD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHD4 Rebecca Foulger edited their review of gene: CHD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHD2 Rebecca Foulger edited their review of gene: CHD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype does not include structural anomalies for detecting pre-natally. Action taken: Demoted CHD2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CHAMP1 Rebecca Foulger edited their review of gene: CHAMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP83 Rebecca Foulger edited their review of gene: CEP83: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP57 Rebecca Foulger edited their review of gene: CEP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP41 Rebecca Foulger edited their review of gene: CEP41: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP290 Rebecca Foulger edited their review of gene: CEP290: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP152 Rebecca Foulger edited their review of gene: CEP152: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP104 Rebecca Foulger edited their review of gene: CEP104: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDKN1C Rebecca Foulger edited their review of gene: CDKN1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Point mutations in CDKN1C can cause phenotypes, and be picked up by this panel. OMIM confirms that CDKN1C is paternally-imprinted with preferential expression of the maternal allele.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.134 CDKL5 Rebecca Foulger edited their review of gene: CDKL5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes progressive microcephaly (which may or may not be detectable in a fetus) plus subtle dysmorphic features and small feet.; Changed rating: GREEN
Fetal anomalies v0.134 CDK13 Rebecca Foulger edited their review of gene: CDK13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDH3 Rebecca Foulger edited their review of gene: CDH3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDC6 Rebecca Foulger edited their review of gene: CDC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDC45 Rebecca Foulger edited their review of gene: CDC45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCND2 Rebecca Foulger edited their review of gene: CCND2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC40 Rebecca Foulger edited their review of gene: CCDC40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC39 Rebecca Foulger edited their review of gene: CCDC39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC115 Rebecca Foulger edited their review of gene: CCDC115: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CCDC115 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CCDC114 Rebecca Foulger edited their review of gene: CCDC114: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC103 Rebecca Foulger edited their review of gene: CCDC103: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCBE1 Rebecca Foulger edited their review of gene: CCBE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CC2D2A Rebecca Foulger edited their review of gene: CC2D2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CC2D1A Rebecca Foulger edited their review of gene: CC2D1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant Additional notes from clinical review: Phenotype doesn't include structural abnormalities. Action taken: Demoted CC2D1A gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CBS Rebecca Foulger edited their review of gene: CBS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CBS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CBL Rebecca Foulger edited their review of gene: CBL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CASK Rebecca Foulger edited their review of gene: CASK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.134 CAD Rebecca Foulger edited their review of gene: CAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset is in infancy and progressive, so wouldn't see pre-natally. Action taken: Demoted CAD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CACNA1C Rebecca Foulger edited their review of gene: CACNA1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital abnormalities.; Changed rating: GREEN
Fetal anomalies v0.134 CA8 Rebecca Foulger edited their review of gene: CA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CA2 Rebecca Foulger edited their review of gene: CA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 C8orf37 Rebecca Foulger edited their review of gene: C8orf37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 C5orf42 Rebecca Foulger edited their review of gene: C5orf42: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 C4orf26 Rebecca Foulger edited their review of gene: C4orf26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted C4orf26 (ODAPH) gene rating from Green to Red.; Changed rating: RED; Changed phenotypes: Amelogenesis imperfecta, type IIA4, 614832
Fetal anomalies v0.134 C2orf71 Rebecca Foulger edited their review of gene: C2orf71: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Retinitis pigmentosa has adult onset with two patients reported with an earlier onset. Action taken: Demoted C2orf71 (PCARE) gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 C21orf2 Rebecca Foulger edited their review of gene: C21orf2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Arthrogryposis reported amongst the phenotypes in OMIM.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 C12orf65 Rebecca Foulger edited their review of gene: C12orf65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Arthrogryposis reported amongst the phenotypes in OMIM.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 BUB1B Rebecca Foulger edited their review of gene: BUB1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural defects.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 BTD Rebecca Foulger edited their review of gene: BTD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Postnatal neurological phenotype, but also relevant for fetal panel.; Changed rating: GREEN
Fetal anomalies v0.134 BSND Rebecca Foulger edited their review of gene: BSND: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BRWD3 Rebecca Foulger edited their review of gene: BRWD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BRWD3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BRPF1 Rebecca Foulger edited their review of gene: BRPF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes club feet.; Changed rating: GREEN
Fetal anomalies v0.134 BRIP1 Rebecca Foulger edited their review of gene: BRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BRAF Rebecca Foulger edited their review of gene: BRAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMPR1B Rebecca Foulger edited their review of gene: BMPR1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMPER Rebecca Foulger edited their review of gene: BMPER: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMP4 Rebecca Foulger edited their review of gene: BMP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BLM Rebecca Foulger edited their review of gene: BLM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Phenotypes include microcephaly and growth restriction.; Changed rating: GREEN
Fetal anomalies v0.134 BIN1 Rebecca Foulger edited their review of gene: BIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BICD2 Rebecca Foulger edited their review of gene: BICD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BICD2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BHLHA9 Rebecca Foulger edited their review of gene: BHLHA9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BFSP2 Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BFSP2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BCOR Rebecca Foulger edited their review of gene: BCOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BCL11A Rebecca Foulger edited their review of gene: BCL11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BCKDHB Rebecca Foulger edited their review of gene: BCKDHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BCKDHB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BCKDHA Rebecca Foulger edited their review of gene: BCKDHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BCKDHA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BCAP31 Rebecca Foulger edited their review of gene: BCAP31: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS9 Rebecca Foulger edited their review of gene: BBS9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS7 Rebecca Foulger edited their review of gene: BBS7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS5 Rebecca Foulger edited their review of gene: BBS5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS2 Rebecca Foulger edited their review of gene: BBS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS12 Rebecca Foulger edited their review of gene: BBS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS10 Rebecca Foulger edited their review of gene: BBS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS1 Rebecca Foulger edited their review of gene: BBS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 B4GALT7 Rebecca Foulger edited their review of gene: B4GALT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 B3GALT6 Rebecca Foulger edited their review of gene: B3GALT6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATRX Rebecca Foulger edited their review of gene: ATRX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATP8B1 Rebecca Foulger edited their review of gene: ATP8B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP8B1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ATP7A Rebecca Foulger edited their review of gene: ATP7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATP6V1B1 Rebecca Foulger edited their review of gene: ATP6V1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP6V1B1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ATM Rebecca Foulger edited their review of gene: ATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATM gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ATIC Rebecca Foulger edited their review of gene: ATIC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASXL1 Rebecca Foulger edited their review of gene: ASXL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASPM Rebecca Foulger edited their review of gene: ASPM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASPA Rebecca Foulger edited their review of gene: ASPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASL Rebecca Foulger edited their review of gene: ASL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ASL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ARX Rebecca Foulger edited their review of gene: ARX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARSE Rebecca Foulger edited their review of gene: ARSE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARSB Rebecca Foulger edited their review of gene: ARSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes multiple features that would present pre-natally.; Changed rating: GREEN
Fetal anomalies v0.134 ARMC9 Rebecca Foulger edited their review of gene: ARMC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARMC4 Rebecca Foulger edited their review of gene: ARMC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes Situs inversus.; Changed rating: GREEN
Fetal anomalies v0.134 ARL6 Rebecca Foulger edited their review of gene: ARL6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARID1B Rebecca Foulger edited their review of gene: ARID1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARID1A Rebecca Foulger edited their review of gene: ARID1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARG1 Rebecca Foulger edited their review of gene: ARG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ARG1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 APTX Rebecca Foulger edited their review of gene: APTX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted APTX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 APOPT1 Rebecca Foulger edited their review of gene: APOPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted APOPT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AP4E1 Rebecca Foulger edited their review of gene: AP4E1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AP1S2 Rebecca Foulger edited their review of gene: AP1S2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ANTXR1 Rebecca Foulger edited their review of gene: ANTXR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ANKRD11 Rebecca Foulger edited their review of gene: ANKRD11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ANKH Rebecca Foulger edited their review of gene: ANKH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AMT Rebecca Foulger edited their review of gene: AMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AMPD2 Rebecca Foulger edited their review of gene: AMPD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALX4 Rebecca Foulger edited their review of gene: ALX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALX3 Rebecca Foulger edited their review of gene: ALX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALX1 Rebecca Foulger edited their review of gene: ALX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALS2 Rebecca Foulger edited their review of gene: ALS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The age of onset is 3-20 years. Action taken: Demoted ALS2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ALMS1 Rebecca Foulger edited their review of gene: ALMS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases (>3) in OMIM to support gene:disease association.; Changed rating: GREEN
Fetal anomalies v0.134 ALG8 Rebecca Foulger edited their review of gene: ALG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG6 Rebecca Foulger edited their review of gene: ALG6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG3 Rebecca Foulger edited their review of gene: ALG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG1 Rebecca Foulger edited their review of gene: ALG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALDOA Rebecca Foulger edited their review of gene: ALDOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH7A1 Rebecca Foulger edited their review of gene: ALDH7A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype has prenatal or neonatal onset and includes in utero convulsions. Treatable.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH5A1 Rebecca Foulger edited their review of gene: ALDH5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ALDH5A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ALDH4A1 Rebecca Foulger edited their review of gene: ALDH4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ALDH4A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ALDH3A2 Rebecca Foulger edited their review of gene: ALDH3A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could present with brain abnormalities.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH1A3 Rebecca Foulger edited their review of gene: ALDH1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH18A1 Rebecca Foulger edited their review of gene: ALDH18A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with both monoallelic and biallelic mode of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 AKT1 Rebecca Foulger edited their review of gene: AKT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AKR1D1 Rebecca Foulger edited their review of gene: AKR1D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AKR1D1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AK2 Rebecca Foulger edited their review of gene: AK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AK2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AIPL1 Rebecca Foulger edited their review of gene: AIPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AIPL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AHI1 Rebecca Foulger edited their review of gene: AHI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AHDC1 Rebecca Foulger edited their review of gene: AHDC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AGPS Rebecca Foulger edited their review of gene: AGPS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AGL Rebecca Foulger edited their review of gene: AGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AGK Rebecca Foulger edited their review of gene: AGK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Bilateral cataracts in first week of life which can be picked up prenatally. 3/12 died in neonatal period.; Changed rating: GREEN
Fetal anomalies v0.134 AGA Rebecca Foulger edited their review of gene: AGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AGA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AFF4 Rebecca Foulger edited their review of gene: AFF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AFF2 Rebecca Foulger edited their review of gene: AFF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AFF2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ADSL Rebecca Foulger edited their review of gene: ADSL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May present with cerebellar atrophy.; Changed rating: GREEN
Fetal anomalies v0.134 ADGRG6 Rebecca Foulger edited their review of gene: ADGRG6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADGRG1 Rebecca Foulger edited their review of gene: ADGRG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADAR Rebecca Foulger edited their review of gene: ADAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADA Rebecca Foulger edited their review of gene: ADA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ADA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ACY1 Rebecca Foulger edited their review of gene: ACY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because the phenotype is severe, and Cerebellar atrophy was reported in 1 patient (OMIM Clinical Synopsis).; Changed rating: GREEN
Fetal anomalies v0.134 ACTG1 Rebecca Foulger edited their review of gene: ACTG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACP5 Rebecca Foulger edited their review of gene: ACP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACOX1 Rebecca Foulger edited their review of gene: ACOX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Brain malformations may be picked up in a late MRI scan.; Changed rating: GREEN; Changed phenotypes: ADRENOLEUKODYSTROPHY PSEUDONEONATAL, Peroxisomal acyl-CoA oxidase deficiency, 264470
Fetal anomalies v0.134 ACAT1 Rebecca Foulger edited their review of gene: ACAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ACAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ACAN Rebecca Foulger edited their review of gene: ACAN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACADVL Rebecca Foulger edited their review of gene: ACADVL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Infantile myopathy presents in the first week of life, and therefore could present in late pregnancy.; Changed rating: GREEN
Fetal anomalies v0.134 ACADM Rebecca Foulger edited their review of gene: ACADM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: This phenotype is screened for neonatally, and would not see pre-natally. Action taken: Demoted ACADM gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ACAD9 Rebecca Foulger edited their review of gene: ACAD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:26475292 includes one pre-natal case.; Changed rating: GREEN; Changed publications: 26475292
Fetal anomalies v0.134 ABHD5 Rebecca Foulger edited their review of gene: ABHD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because Collodion baby is one of the phenotypes of Chanarin-Dorfman syndrome.; Changed rating: GREEN
Fetal anomalies v0.134 ABCC9 Rebecca Foulger edited their review of gene: ABCC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ABCC6 Rebecca Foulger edited their review of gene: ABCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ABCB7 Rebecca Foulger edited their review of gene: ABCB7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ABCB7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ABCB11 Rebecca Foulger edited their review of gene: ABCB11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ABCB11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AAAS Rebecca Foulger edited their review of gene: AAAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 UBA1 Rebecca Foulger edited their review of gene: UBA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TTC21B Rebecca Foulger edited their review of gene: TTC21B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TPM3 Rebecca Foulger edited their review of gene: TPM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TNXB Rebecca Foulger edited their review of gene: TNXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TNXB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 TNNT1 Rebecca Foulger edited their review of gene: TNNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TNNI2 Rebecca Foulger edited their review of gene: TNNI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TMEM231 Rebecca Foulger edited their review of gene: TMEM231: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TMEM138 Rebecca Foulger edited their review of gene: TMEM138: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TGM1 Rebecca Foulger edited their review of gene: TGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TGIF1 Rebecca Foulger edited their review of gene: TGIF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TCIRG1 Rebecca Foulger edited their review of gene: TCIRG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TBX6 Rebecca Foulger edited their review of gene: TBX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SRD5A2 Rebecca Foulger edited their review of gene: SRD5A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SP110 Rebecca Foulger edited their review of gene: SP110: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SP110 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 SOST Rebecca Foulger edited their review of gene: SOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Change mode of inheritance to 'both monoallelic and biallelic' to include AD Craniodiaphyseal dysplasia. Action taken: Changed Mode of inheritance from 'biallelic' to 'both monoallelic and biallelic'.; Changed rating: GREEN; Changed phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, 122860, Sclerosteosis 1, 269500; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 SLC26A3 Rebecca Foulger edited their review of gene: SLC26A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SLC12A1 Rebecca Foulger edited their review of gene: SLC12A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SGCA Rebecca Foulger edited their review of gene: SGCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SGCA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 SELENON Rebecca Foulger edited their review of gene: SELENON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SELENON gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 RPS26 Rebecca Foulger edited their review of gene: RPS26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPS17 Rebecca Foulger edited their review of gene: RPS17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPS10 Rebecca Foulger edited their review of gene: RPS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPL5 Rebecca Foulger edited their review of gene: RPL5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPL11 Rebecca Foulger edited their review of gene: RPL11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 REN Rebecca Foulger edited their review of gene: REN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 PRG4 Rebecca Foulger edited their review of gene: PRG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.134 POR Rebecca Foulger edited their review of gene: POR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PKLR Rebecca Foulger edited their review of gene: PKLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PKD2 Rebecca Foulger edited their review of gene: PKD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PKD1 Rebecca Foulger edited their review of gene: PKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 OSTM1 Rebecca Foulger edited their review of gene: OSTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 OCLN Rebecca Foulger edited their review of gene: OCLN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR0B1 Rebecca Foulger edited their review of gene: NR0B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NHEJ1 Rebecca Foulger edited their review of gene: NHEJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYBPC1 Rebecca Foulger edited their review of gene: MYBPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSH6 Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but these rare tumours could potentially present neonatally. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 MSH2 Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but these rare tumours could potentially present neonatally. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 MLH1 Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but very rarely there is a chance of tumours presenting very early as fetal adrenal/renal masses. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 MBTPS2 Rebecca Foulger edited their review of gene: MBTPS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LZTFL1 Rebecca Foulger edited their review of gene: LZTFL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LTBP4 Rebecca Foulger edited their review of gene: LTBP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient (>3) cases in OMIM to support gene:disease association.; Changed rating: GREEN
Fetal anomalies v0.134 LMOD3 Rebecca Foulger edited their review of gene: LMOD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LMBR1 Rebecca Foulger edited their review of gene: LMBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LIFR Rebecca Foulger edited their review of gene: LIFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KLHL41 Rebecca Foulger edited their review of gene: KLHL41: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Biallelic inheritance. Sufficient (>3) unrelated cases in OMIM to support gene:disease association.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 KCNJ2 Rebecca Foulger edited their review of gene: KCNJ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases in OMIM to support gene:disease association, and phenotype would include some structural features.; Changed rating: GREEN
Fetal anomalies v0.134 KCNJ1 Rebecca Foulger edited their review of gene: KCNJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases (3) in OMIM to support gene:disease association.; Changed rating: GREEN
Fetal anomalies v0.134 ITGB4 Rebecca Foulger edited their review of gene: ITGB4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. ITGB4 is rated Green on the V1.6 'Epidermolysis bullosa' panel.; Changed rating: GREEN
Fetal anomalies v0.134 ITGA6 Rebecca Foulger edited their review of gene: ITGA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. Although there is only one reported case in OMIM, ITGA6 is rated Green on the V1.6 'Epidermolysis bullosa' panel due to expert review and recent additional publications.; Changed rating: GREEN
Fetal anomalies v0.134 IQCB1 Rebecca Foulger edited their review of gene: IQCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INVS Rebecca Foulger edited their review of gene: INVS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INSR Rebecca Foulger edited their review of gene: INSR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IER3IP1 Rebecca Foulger edited their review of gene: IER3IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSD17B3 Rebecca Foulger edited their review of gene: HSD17B3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could present with ambiguous genitalia.; Changed rating: GREEN
Fetal anomalies v0.134 HES7 Rebecca Foulger edited their review of gene: HES7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRIP1 Rebecca Foulger edited their review of gene: GRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include. 3 unrelated cases reported in PMID:22510445.; Changed rating: GREEN; Changed publications: 22510445
Fetal anomalies v0.134 GPI Rebecca Foulger edited their review of gene: GPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include GPI gene because could hydrops is a feature.; Changed rating: GREEN
Fetal anomalies v0.134 FGF8 Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include- the pituitary would present as structurally abnormal.; Changed rating: GREEN
Fetal anomalies v0.134 FBLN5 Rebecca Foulger edited their review of gene: FBLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- Macular degeneration presents with AD inheritance so don't want to include this.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 DNAI1 Rebecca Foulger edited their review of gene: DNAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DNAH11 Rebecca Foulger edited their review of gene: DNAH11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DNAAF1 Rebecca Foulger edited their review of gene: DNAAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP21A2 Rebecca Foulger edited their review of gene: CYP21A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP17A1 Rebecca Foulger edited their review of gene: CYP17A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP11B1 Rebecca Foulger edited their review of gene: CYP11B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRTAP Rebecca Foulger edited their review of gene: CRTAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRLF1 Rebecca Foulger edited their review of gene: CRLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CPT2 Rebecca Foulger edited their review of gene: CPT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 COL5A2 Rebecca Foulger edited their review of gene: COL5A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: pre-natal diagnosis will not explain phenotype in the fetus. Action taken: Demoted COL5A2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL5A1 Rebecca Foulger edited their review of gene: COL5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: pre-natal diagnosis will not explain phenotype in the fetus. Action taken: Demoted COL5A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CHRND Rebecca Foulger edited their review of gene: CHRND: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHKB Rebecca Foulger edited their review of gene: CHKB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: unclear whether it would present pre-natally but would want to know this result due to severe phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 CHAT Rebecca Foulger edited their review of gene: CHAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CFTR Rebecca Foulger edited their review of gene: CFTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 CEP164 Rebecca Foulger edited their review of gene: CEP164: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDAN1 Rebecca Foulger edited their review of gene: CDAN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Additional unpublished case with hydrops.; Changed rating: GREEN
Fetal anomalies v0.134 CAVIN1 Rebecca Foulger edited their review of gene: CAVIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CAVIN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 B3GLCT Rebecca Foulger edited their review of gene: B3GLCT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Peters-plus syndrome itself would not be picked up, but other common features can be detected pre-natally (e.g. clefting).; Changed rating: GREEN
Fetal anomalies v0.134 B3GAT3 Rebecca Foulger edited their review of gene: B3GAT3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATP6V0A2 Rebecca Foulger edited their review of gene: ATP6V0A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASNS Rebecca Foulger edited their review of gene: ASNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AP3B1 Rebecca Foulger edited their review of gene: AP3B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AP3B1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AGRN Rebecca Foulger edited their review of gene: AGRN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Unlikely to detect congenital myasthenia prenatally. Action taken: Demoted AGRN gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ADAMTSL2 Rebecca Foulger edited their review of gene: ADAMTSL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADAMTS10 Rebecca Foulger edited their review of gene: ADAMTS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACTG2 Rebecca Foulger edited their review of gene: ACTG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACE Rebecca Foulger edited their review of gene: ACE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ABCA12 Rebecca Foulger edited their review of gene: ABCA12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 WDR19 Rebecca Foulger edited their review of gene: WDR19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TMEM67 Rebecca Foulger edited their review of gene: TMEM67: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SOX9 Rebecca Foulger edited their review of gene: SOX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RTTN Rebecca Foulger edited their review of gene: RTTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PEX12 Rebecca Foulger edited their review of gene: PEX12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PEX1 Rebecca Foulger edited their review of gene: PEX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 OFD1 Rebecca Foulger edited their review of gene: OFD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NIPBL Rebecca Foulger edited their review of gene: NIPBL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEB Rebecca Foulger edited their review of gene: NEB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYH3 Rebecca Foulger edited their review of gene: MYH3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MUSK Rebecca Foulger edited their review of gene: MUSK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KCTD1 Rebecca Foulger edited their review of gene: KCTD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HRAS Rebecca Foulger edited their review of gene: HRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GBE1 Rebecca Foulger edited their review of gene: GBE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLT4 Rebecca Foulger edited their review of gene: FLT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCB Rebecca Foulger edited their review of gene: FANCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EVC2 Rebecca Foulger edited their review of gene: EVC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYNC2H1 Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable.; Changed rating: GREEN
Fetal anomalies v0.134 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL1A2 Rebecca Foulger edited their review of gene: COL1A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Need caution when reviewing variants in COL1A1, because different variants are associated with different phenotypes. Gain of function variants cause a more severe phenotype than LOF variants, which cause a mild phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 BBS4 Rebecca Foulger edited their review of gene: BBS4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALPL Rebecca Foulger edited their review of gene: ALPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG12 Rebecca Foulger edited their review of gene: ALG12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 STAT1 Rebecca Foulger edited their review of gene: STAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 EIF2B3 Rebecca Foulger edited their review of gene: EIF2B3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMP1 Rebecca Foulger edited their review of gene: BMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACTC1 Rebecca Foulger edited their review of gene: ACTC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.133 C4orf26 Rebecca Foulger Phenotypes for gene: C4orf26 were changed from Amelogenesis imperfecta, type IIA4; 614832 to Amelogenesis imperfecta, type IIA4, 614832
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Classified gene: PLN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Gene: pln has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Classified gene: VCL as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Gene: vcl has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Classified gene: TTN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Classified gene: TNNT2 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Gene: tnnt2 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Classified gene: TNNI3 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Gene: tnni3 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Classified gene: SCN5A as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Gene: scn5a has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Classified gene: RBM20 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Gene: rbm20 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Classified gene: TNNC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Classified gene: TCAP as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Gene: tcap has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Classified gene: SGCD as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has Red/Amber reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Gene: sgcd has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.19 NEXN Ellen McDonagh Classified gene: NEXN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.19 NEXN Ellen McDonagh Gene: nexn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Classified gene: NEXN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Gene: nexn has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.16 MYH6 Ellen McDonagh Classified gene: MYH6 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.16 MYH6 Ellen McDonagh Gene: myh6 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Classified gene: MYH6 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Gene: myh6 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Classified gene: MYBPC3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Classified gene: LMNA as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Gene: lmna has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Classified gene: FKTN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Classified gene: EYA4 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Gene: eya4 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Classified gene: DES as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Gene: des has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Classified gene: CSRP3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Gene: csrp3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Classified gene: ACTN2 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Classified gene: ACTC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Gene: actc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Classified gene: ABCC9 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Gene: abcc9 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.52 Ellen McDonagh List of related panels changed from Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult to Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult
Dilated and arrhythmogenic cardiomyopathy v0.4 Ellen McDonagh Panel status changed from internal to public
Dilated Cardiomyopathy and conduction defects v1.50 Ellen McDonagh Panel name changed from Dilated cardiomyopathy - teen and adult to Dilated Cardiomyopathy and conduction defects
List of related panels changed from Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM) to Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult
Panel types changed to Rare Disease 100K
Hypogonadotropic hypogonadism (GMS) v0.27 SOX2 Ivone Leong Classified gene: SOX2 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.27 SOX2 Ivone Leong Gene: sox2 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.26 SLC29A3 Ivone Leong Classified gene: SLC29A3 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.26 SLC29A3 Ivone Leong Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.25 NSMF Ivone Leong Classified gene: NSMF as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.25 NSMF Ivone Leong Gene: nsmf has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.24 GNRH1 Ivone Leong Classified gene: GNRH1 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.24 GNRH1 Ivone Leong Gene: gnrh1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.23 FEZF1 Ivone Leong Classified gene: FEZF1 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.23 FEZF1 Ivone Leong Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.22 DCAF17 Ivone Leong Classified gene: DCAF17 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.22 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.21 WDR11 Ivone Leong Classified gene: WDR11 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.21 WDR11 Ivone Leong Gene: wdr11 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.20 TACR3 Ivone Leong Classified gene: TACR3 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.20 TACR3 Ivone Leong Gene: tacr3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.19 TAC3 Ivone Leong Classified gene: TAC3 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.19 TAC3 Ivone Leong Gene: tac3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.18 PROKR2 Ivone Leong Classified gene: PROKR2 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.18 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.17 PROK2 Ivone Leong Classified gene: PROK2 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.17 PROK2 Ivone Leong Gene: prok2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.16 LHB Ivone Leong Classified gene: LHB as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.16 LHB Ivone Leong Gene: lhb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.15 KISS1R Ivone Leong Classified gene: KISS1R as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.15 KISS1R Ivone Leong Gene: kiss1r has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.14 IL17RD Ivone Leong Classified gene: IL17RD as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.14 IL17RD Ivone Leong Gene: il17rd has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.13 GNRHR Ivone Leong Classified gene: GNRHR as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.13 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.12 FSHB Ivone Leong Classified gene: FSHB as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.12 FSHB Ivone Leong Gene: fshb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.11 FGFR1 Ivone Leong Classified gene: FGFR1 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.11 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.10 FGF8 Ivone Leong Classified gene: FGF8 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.10 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.9 CHD7 Ivone Leong Classified gene: CHD7 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.9 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.8 ANOS1 Ivone Leong Classified gene: ANOS1 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.8 ANOS1 Ivone Leong Gene: anos1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.7 KLB Simon Thomas reviewed gene: KLB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SOX3 Simon Thomas reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 WDR11 Simon Thomas reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 TFR2 Simon Thomas reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 TACR3 Simon Thomas reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 TAC3 Simon Thomas reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SOX2 Simon Thomas reviewed gene: SOX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SOX10 Simon Thomas reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SLC40A1 Simon Thomas reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SLC29A3 Simon Thomas reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 PROP1 Simon Thomas reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 PROKR2 Simon Thomas reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 PROK2 Simon Thomas reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 NSMF Simon Thomas reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 NR0B1 Simon Thomas reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 LHX4 Simon Thomas reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 LHB Simon Thomas reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 KISS1R Simon Thomas reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 IL17RD Simon Thomas reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 HFE Simon Thomas reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 HAMP Simon Thomas reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 GNRHR Simon Thomas reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 GNRH1 Simon Thomas reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 GLI2 Simon Thomas reviewed gene: GLI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FSHB Simon Thomas reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FGFR1 Simon Thomas reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FGF8 Simon Thomas reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FEZF1 Simon Thomas reviewed gene: FEZF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 DCAF17 Simon Thomas reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 CUL4B Simon Thomas reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 CHD7 Simon Thomas reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 ANOS1 Simon Thomas reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.6 KLB Ivone Leong gene: KLB was added
gene: KLB was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KLB were set to Congenital hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism (GMS) v0.6 SOX3 Ivone Leong gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked
Hypogonadotropic hypogonadism (GMS) v0.6 WDR11 Ivone Leong Source Wessex and West Midlands GLH was added to WDR11.
Hypogonadotropic hypogonadism (GMS) v0.6 TFR2 Ivone Leong Source Wessex and West Midlands GLH was added to TFR2.
Hypogonadotropic hypogonadism (GMS) v0.6 TACR3 Ivone Leong Source Wessex and West Midlands GLH was added to TACR3.
Hypogonadotropic hypogonadism (GMS) v0.6 TAC3 Ivone Leong Source Wessex and West Midlands GLH was added to TAC3.
Hypogonadotropic hypogonadism (GMS) v0.6 SOX2 Ivone Leong Source Wessex and West Midlands GLH was added to SOX2.
Hypogonadotropic hypogonadism (GMS) v0.6 SOX10 Ivone Leong Source Wessex and West Midlands GLH was added to SOX10.
Hypogonadotropic hypogonadism (GMS) v0.6 SLC40A1 Ivone Leong Source Wessex and West Midlands GLH was added to SLC40A1.
Hypogonadotropic hypogonadism (GMS) v0.6 SLC29A3 Ivone Leong Source Wessex and West Midlands GLH was added to SLC29A3.
Hypogonadotropic hypogonadism (GMS) v0.6 PROP1 Ivone Leong Source Wessex and West Midlands GLH was added to PROP1.
Hypogonadotropic hypogonadism (GMS) v0.6 PROKR2 Ivone Leong Source Wessex and West Midlands GLH was added to PROKR2.
Hypogonadotropic hypogonadism (GMS) v0.6 PROK2 Ivone Leong Source Wessex and West Midlands GLH was added to PROK2.
Hypogonadotropic hypogonadism (GMS) v0.6 NSMF Ivone Leong Source Wessex and West Midlands GLH was added to NSMF.
Hypogonadotropic hypogonadism (GMS) v0.6 NR0B1 Ivone Leong Source Wessex and West Midlands GLH was added to NR0B1.
Hypogonadotropic hypogonadism (GMS) v0.6 LHX4 Ivone Leong Source Wessex and West Midlands GLH was added to LHX4.
Hypogonadotropic hypogonadism (GMS) v0.6 LHB Ivone Leong Source Wessex and West Midlands GLH was added to LHB.
Hypogonadotropic hypogonadism (GMS) v0.6 KISS1R Ivone Leong Source Wessex and West Midlands GLH was added to KISS1R.
Hypogonadotropic hypogonadism (GMS) v0.6 IL17RD Ivone Leong Source Wessex and West Midlands GLH was added to IL17RD.
Hypogonadotropic hypogonadism (GMS) v0.6 HFE Ivone Leong Source Wessex and West Midlands GLH was added to HFE.
Hypogonadotropic hypogonadism (GMS) v0.6 HAMP Ivone Leong Source Wessex and West Midlands GLH was added to HAMP.
Hypogonadotropic hypogonadism (GMS) v0.6 GNRHR Ivone Leong Source Wessex and West Midlands GLH was added to GNRHR.
Hypogonadotropic hypogonadism (GMS) v0.6 GNRH1 Ivone Leong Source Wessex and West Midlands GLH was added to GNRH1.
Hypogonadotropic hypogonadism (GMS) v0.6 GLI2 Ivone Leong Source Wessex and West Midlands GLH was added to GLI2.
Hypogonadotropic hypogonadism (GMS) v0.6 FSHB Ivone Leong Source Wessex and West Midlands GLH was added to FSHB.
Hypogonadotropic hypogonadism (GMS) v0.6 FGFR1 Ivone Leong Source Wessex and West Midlands GLH was added to FGFR1.
Hypogonadotropic hypogonadism (GMS) v0.6 FGF8 Ivone Leong Source Wessex and West Midlands GLH was added to FGF8.
Hypogonadotropic hypogonadism (GMS) v0.6 FEZF1 Ivone Leong Source Wessex and West Midlands GLH was added to FEZF1.
Hypogonadotropic hypogonadism (GMS) v0.6 DCAF17 Ivone Leong Source Wessex and West Midlands GLH was added to DCAF17.
Hypogonadotropic hypogonadism (GMS) v0.6 CUL4B Ivone Leong Source Wessex and West Midlands GLH was added to CUL4B.
Hypogonadotropic hypogonadism (GMS) v0.6 CHD7 Ivone Leong Source Wessex and West Midlands GLH was added to CHD7.
Hypogonadotropic hypogonadism (GMS) v0.6 ANOS1 Ivone Leong Source Wessex and West Midlands GLH was added to ANOS1.
Optic neuropathy v1.109 TIMM8A Ivone Leong Publications for gene: TIMM8A were set to 20301395
Optic neuropathy v1.108 SPG7 Ivone Leong Classified gene: SPG7 as Green List (high evidence)
Optic neuropathy v1.108 SPG7 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are >3 unrelated cases with different variants reported. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.
Optic neuropathy v1.108 SPG7 Ivone Leong Gene: spg7 has been classified as Green List (High Evidence).
Optic neuropathy v1.107 SPG7 Ivone Leong Publications for gene: SPG7 were set to
Sporadic aniridia v1.7 PAX6 Jonathan Callaway reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Sporadic aniridia v1.7 PAX6 Jonathan Callaway Deleted their review
Sporadic aniridia v1.7 PAX6 Jonathan Callaway reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: aniridia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss v1.103 CLIC5 Alistair Pagnamenta reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24781754, 17021174; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.106 TMEM126A Ivone Leong Tag founder-effect tag was added to gene: TMEM126A.
Proteinuric renal disease v1.16 ARHGDIA Eleanor Williams edited their review of gene: ARHGDIA: Added comment: PMID: 23434736 - Gupta et al 2013 - 2 sisters with congenital nephrotic syndrome who were born to consanguineous parents of Pakistani origin. Using whole exome sequencing, they found both girls have a homozygous in-frame deletion in ARHGDIA, c.553_555del(p.Asp185del). The healthy mother was found to be a heterozygous carrier for this deletion. The father's DNA was unavailable for analysis. Functional studies showed that RhoGDIα protein was strongly expressed in the glomerulus of the adult mouse kidney and that normal binding of mutant protein was impaired.

PMID: 23867502 - Gee et al 2013 - performed homozygosity mapping and then whole exome resequencing in a family of Ashkenazi Jewish origin in whom 2 siblings had early-onset SRNS with renal histology of diffuse mesangial sclerosis. They found in both siblings a homozygous missense mutation (c.518G>T;p.G173V) of ARHGDIA. They then examined 65 additional individuals with DMS and 350 individuals with SRNS, we detected a homozygous mutation (c.358C>T;p.R120X) in an infant (Moroccan) with congenital NS. Functional studies showed both mutant protein had abrogated interaction with RHO GTPases and the nephrotic phenotype was recapitulated in arhgdia-deficient zebrafish.

PMID: 30295827 - Schapiro et al 2019 - screen for 11 AS, aHUS and thrombotic thrombocytopenic purpura-causing genes by exon sequencing and 23 SRNS-causing genes by WES or high-throughput exon sequencing in an international cohort of 371 patients from 362 families presenting with both proteinuria and hematuria before age 25 years. This screen included ARHGDIA. 1 consangineious Jewish family with 2 individuals are homozgous for c.518G>T, p.Gly173Val.

Summary - 4 families with 3 different variants reported. The two Jewish families have the same variant. Functional evidence that the protein is expressed in the kidney and that the function of mutant protein is impared.; Changed publications: 23434736, 23867502, 30295827
Optic neuropathy v1.106 TMEM126A Ivone Leong Phenotypes for gene: TMEM126A were changed from Optic Atrophy, Recessive to Optic Atrophy, Recessive; Optic atrophy 7, 612989
Fetal anomalies v0.132 ASCC1 Julia Baptista gene: ASCC1 was added
gene: ASCC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Review for gene: ASCC1 was set to GREEN
gene: ASCC1 was marked as current diagnostic
Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: Literature
Arthrogryposis v2.37 ASCC1 Julia Baptista gene: ASCC1 was added
gene: ASCC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Review for gene: ASCC1 was set to GREEN
gene: ASCC1 was marked as current diagnostic
Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: Literature
DDG2P v1.8 ASCC1 Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.105 MFF Ivone Leong Classified gene: MFF as Green List (high evidence)
Optic neuropathy v1.105 MFF Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. The gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases with different variants in this gene associated with optic atrophy and also based on the expert review, it was decided that there is enough evidence to promote this gene to a green rating.
Optic neuropathy v1.105 MFF Ivone Leong Gene: mff has been classified as Green List (High Evidence).
Optic neuropathy v1.104 MFF Ivone Leong Publications for gene: MFF were set to 30581454; 26783368
Optic neuropathy v1.103 DNM1L Ivone Leong Classified gene: DNM1L as Green List (high evidence)
Optic neuropathy v1.103 DNM1L Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are 3 unrelated cases with different variants in OMIM. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.
Optic neuropathy v1.103 DNM1L Ivone Leong Gene: dnm1l has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.9 RELT Eleanor Williams Publications for gene: RELT were set to PMID: 30506946
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Classified gene: RELT as Green List (high evidence)
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Added comment: Comment on list classification: 3 cases with 3 different variants. Segregation of the variant with the disease. Mouse knockout shows a related phenotype.
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Gene: relt has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.7 RELT Eleanor Williams commented on gene: RELT
Congenital fibrosis of the extraocular muscles v0.8 GRHL2 Morag Shanks reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: ; Publications: 29110737; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: Unknown
Congenital fibrosis of the extraocular muscles v0.8 COL25A1 Morag Shanks reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: Fibrosis of extraocular muscles, congenital, 5 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital fibrosis of the extraocular muscles v0.8 TUBB2B Morag Shanks reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: ; Publications: 23001566; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.8 TUBB3 Morag Shanks reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20074521, 27428177; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.8 PHOX2A Morag Shanks reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11600883, 22311481, 14597037; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital fibrosis of the extraocular muscles v0.8 KIF21A Morag Shanks reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15223798, 15621876, 15621877, 18332320; Phenotypes: Fibrosis of extraocular muscles, congenital, 1 135700, Fibrosis of extraocular muscles, congenital, 3B 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.7 GRHL2 Ivone Leong gene: GRHL2 was added
gene: GRHL2 was added to Congenital fibrosis of the extraocular muscles. Sources: Wessex and West Midlands GLH,Expert Review Red
Mode of inheritance for gene: GRHL2 was set to Unknown
Publications for gene: GRHL2 were set to 29110737
Phenotypes for gene: GRHL2 were set to Fibrosis of extraocular muscles, congenital
Congenital fibrosis of the extraocular muscles v0.7 COL25A1 Ivone Leong Source Wessex and West Midlands GLH was added to COL25A1.
Source Expert Review Amber was added to COL25A1.
Added phenotypes Fibrosis of extraocular muscles, congenital, 5 616219 for gene: COL25A1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Congenital fibrosis of the extraocular muscles v0.7 TUBB2B Ivone Leong Source Wessex and West Midlands GLH was added to TUBB2B.
Source Expert Review Red was added to TUBB2B.
Added phenotypes Fibrosis of extraocular muscles, congenital for gene: TUBB2B
Publications for gene TUBB2B were changed from 11425694; 23001566 to 23001566
Congenital fibrosis of the extraocular muscles v0.7 TUBB3 Ivone Leong Source Wessex and West Midlands GLH was added to TUBB3.
Source Expert Review Green was added to TUBB3.
Added phenotypes Fibrosis of extraocular muscles, congenital, 3A 600638 for gene: TUBB3
Publications for gene TUBB3 were changed from to 20074521; 27428177
Rating Changed from Red List (low evidence) to Green List (high evidence)
Congenital fibrosis of the extraocular muscles v0.7 PHOX2A Ivone Leong Source Wessex and West Midlands GLH was added to PHOX2A.
Source Expert Review Green was added to PHOX2A.
Mode of inheritance for gene PHOX2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 for gene: PHOX2A
Publications for gene PHOX2A were changed from 11600883 to 11600883; 14597037; 22311481
Rating Changed from Red List (low evidence) to Green List (high evidence)
Congenital fibrosis of the extraocular muscles v0.7 KIF21A Ivone Leong Source Wessex and West Midlands GLH was added to KIF21A.
Source Expert Review Green was added to KIF21A.
Added phenotypes Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 for gene: KIF21A
Publications for gene KIF21A were changed from 15621876 to 15621876; 15621877; 15223798; 18332320
Rating Changed from Red List (low evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v0.10 MT-TF Eleanor Williams Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Classified gene: MT-TF as Green List (high evidence)
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Added comment: Comment on list classification: Rating this gene as green due to expert review and because there are more than 3 cases of individuals with variants in this gene and tubulointerstitial kidney disease.
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Gene: mt-tf has been classified as Green List (High Evidence).
Sporadic aniridia v1.7 PITX2 Ivone Leong Publications for gene: PITX2 were set to
Sporadic aniridia v1.6 ITPR1 Ivone Leong Publications for gene: ITPR1 were set to
Sporadic aniridia v1.5 FOXC1 Ivone Leong Publications for gene: FOXC1 were set to
Sporadic aniridia v1.4 ITPR1 Morag Shanks reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27108797, 27108798; Phenotypes: Gillespie syndrome 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sporadic aniridia v1.4 PITX2 Morag Shanks reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21423868, 27124303; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.4 FOXC1 Morag Shanks reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19279310, 25691405, 27124303; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.4 TRIM44 Morag Shanks reviewed gene: TRIM44: Rating: RED; Mode of pathogenicity: ; Publications: 26394807; Phenotypes: ?Aniridia 3 617142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.4 ELP4 Morag Shanks reviewed gene: ELP4: Rating: RED; Mode of pathogenicity: ; Publications: 24290376; Phenotypes: ?Aniridia 2 617141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sporadic aniridia v1.4 PAX6 Morag Shanks reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 1302030, 8111379, 7951315, 7666404, 7550230, 19876904, 9931324, 12552561, 11826019?, 11553050, 17148041, 17595013, 17406642; Phenotypes: Aniridia 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Sporadic aniridia v1.3 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142; ?Aniridia 3 617142 to ?Aniridia 3, 617142
Sporadic aniridia v1.2 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141; ?Aniridia 2 617141 to ?Aniridia 2, 617141
Sporadic aniridia v1.1 ITPR1 Ivone Leong gene: ITPR1 was added
gene: ITPR1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700
Sporadic aniridia v1.1 PITX2 Ivone Leong gene: PITX2 was added
gene: PITX2 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Amber
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.1 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.1 TRIM44 Ivone Leong Source Wessex and West Midlands GLH was added to TRIM44.
Added phenotypes ?Aniridia 3 617142 for gene: TRIM44
Sporadic aniridia v1.1 ELP4 Ivone Leong Source Wessex and West Midlands GLH was added to ELP4.
Mode of inheritance for gene ELP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Aniridia 2 617141 for gene: ELP4
Sporadic aniridia v1.1 PAX6 Ivone Leong Source Wessex and West Midlands GLH was added to PAX6.
Added phenotypes Aniridia 106210 for gene: PAX6
Tubulointerstitial kidney disease v0.8 MT-TF Eleanor Williams commented on gene: MT-TF
Albinism or congenital nystagmus v0.17 TULP1 Jonathan Callaway reviewed gene: TULP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15 613843 AR, Retinitis pigmentosa 14 600132 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MYO5A Jonathan Callaway reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 1 214450 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MLPH Jonathan Callaway reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3 609227 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MANBA Jonathan Callaway reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 DTNBP1 Jonathan Callaway reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 7 614076 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 BLOC1S6 Jonathan Callaway reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-pudlak syndrome 9 614171 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 BLOC1S3 Jonathan Callaway reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 8 614077 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 AP3D1 Jonathan Callaway reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-Pudlak syndrome 10 617050 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 SLC38A8 Jonathan Callaway reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: Poulter el al. 2013 (PMID 24290379), Perez et al. 2014 (PMID 24045842) and Lasseaux et al. 2018 (PMID 29345414).; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.16 TULP1 Ivone Leong Source Expert Review Amber was added to TULP1.
Added phenotypes Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR for gene: TULP1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MYO5A Ivone Leong Source Expert Review Amber was added to MYO5A.
Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MLPH Ivone Leong Source Expert Review Amber was added to MLPH.
Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MANBA Ivone Leong Source Expert Review Amber was added to MANBA.
Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 DTNBP1 Ivone Leong Source Expert Review Amber was added to DTNBP1.
Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 BLOC1S6 Ivone Leong Source Expert Review Amber was added to BLOC1S6.
Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 BLOC1S3 Ivone Leong Source Expert Review Amber was added to BLOC1S3.
Added phenotypes Hermansky-Pudlak syndrome 8 614077 AR for gene: BLOC1S3
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 AP3D1 Ivone Leong Source Expert Review Amber was added to AP3D1.
Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 SLC38A8 Ivone Leong Source Expert Review Green was added to SLC38A8.
Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR for gene: SLC38A8
Rating Changed from Red List (low evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.15 TULP1 Ivone Leong gene: TULP1 was added
gene: TULP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR
Albinism or congenital nystagmus v0.15 MYO5A Ivone Leong gene: MYO5A was added
gene: MYO5A was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR
Albinism or congenital nystagmus v0.15 MLPH Ivone Leong gene: MLPH was added
gene: MLPH was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR
Albinism or congenital nystagmus v0.15 MANBA Ivone Leong gene: MANBA was added
gene: MANBA was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR
Albinism or congenital nystagmus v0.15 DTNBP1 Ivone Leong gene: DTNBP1 was added
gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR
Albinism or congenital nystagmus v0.15 BLOC1S6 Ivone Leong gene: BLOC1S6 was added
gene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR
Albinism or congenital nystagmus v0.15 BLOC1S3 Ivone Leong gene: BLOC1S3 was added
gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8 614077 AR
Albinism or congenital nystagmus v0.15 AP3D1 Ivone Leong gene: AP3D1 was added
gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR
Albinism or congenital nystagmus v0.15 SLC38A8 Ivone Leong gene: SLC38A8 was added
gene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 24290379; 29345414; 24045842
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR
Albinism or congenital nystagmus v0.14 SETX Ivone Leong Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 SACS Ivone Leong Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 RAB27A Ivone Leong Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 PAX6 Ivone Leong Added phenotypes Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD for gene: PAX6
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 HPS6 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 CASK Ivone Leong Added phenotypes Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 for gene: CASK
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 CACNA1F Ivone Leong Added phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL for gene: CACNA1F
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 AP3B1 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.102 DNM1L Ivone Leong Publications for gene: DNM1L were set to 28969390
Optic neuropathy v1.101 CISD2 Ivone Leong Classified gene: CISD2 as Green List (high evidence)
Optic neuropathy v1.101 CISD2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. A phenotype is associated with CISD2 in OMIM and Gene2phenotype. Optic atrophy is a phenotype of Wolfram syndrome and there are >3 unrelated cases of different variants in this gene. Based on this evidence and the expert review it was decided that there is enough evidence to promote this gene to green.
Optic neuropathy v1.101 CISD2 Ivone Leong Gene: cisd2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.50 PRKAG2 Matthew Edwards reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26835038, 15673802; Phenotypes: Cardiomyopathy, familial hypertrophic 6 (600858), Glycogen storage disease of heart, lethal congenital (261740), Wolff-Parkinson-White syndrome (194200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.100 CISD2 Ivone Leong Publications for gene: CISD2 were set to
Hypertrophic cardiomyopathy v1.50 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313, 27532257, 28369730, 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 LAMP2 Matthew Edwards reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26835038; Phenotypes: Danon disease (300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v1.50 GLA Matthew Edwards reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, cardiac variant (301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Optic neuropathy v1.99 C19orf12 Ivone Leong Classified gene: C19orf12 as Green List (high evidence)
Optic neuropathy v1.99 C19orf12 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. C19orf12 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of different variants in OMIM. Based on this and the expert review, it was decided that there is enough evidence to promote this gene to a green rating.
Optic neuropathy v1.99 C19orf12 Ivone Leong Gene: c19orf12 has been classified as Green List (High Evidence).
Cytopenia - NOT Fanconi anaemia v0.32 PARN Louise Daugherty Phenotypes for gene: PARN were changed from 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6,; 616353 Dyskeratosis congenita, autosomal recessive 6 to 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; 616353 Dyskeratosis congenita, autosomal recessive 6
Hypertrophic cardiomyopathy v1.50 FHL1 Matthew Edwards reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 20186852, 22523091, 29926425; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic neuropathy v1.98 C12orf65 Ivone Leong Classified gene: C12orf65 as Green List (high evidence)
Optic neuropathy v1.98 C12orf65 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. C12orf65 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases with different variants in this gene described in OMIM associated with optic atrophy. Therefore, based on the former and the evidence provided by the expert review, there is enough evidence to promote this gene to green status.
Optic neuropathy v1.98 C12orf65 Ivone Leong Gene: c12orf65 has been classified as Green List (High Evidence).
Optic neuropathy v1.97 C12orf65 Ivone Leong Publications for gene: C12orf65 were set to 28091420; 25995486
Hypertrophic cardiomyopathy v1.50 CSRP3 Matthew Edwards reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 JPH2 Matthew Edwards reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TNNC1 Matthew Edwards reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYL2 Matthew Edwards reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYL3 Matthew Edwards reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TPM1 Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TNNI3 Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.50 TNNT2 Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYH7 Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYBPC3 Matthew Edwards reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 TRDN Matthew Edwards reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, ARVC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 CASQ2 Matthew Edwards reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16908766; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, LQTS 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 CAV3 Matthew Edwards reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: 17060380; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.95 ZNHIT3 Ivone Leong Phenotypes for gene: ZNHIT3 were changed from to Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565
Optic neuropathy v1.94 ZNHIT3 Ivone Leong Publications for gene: ZNHIT3 were set to
Optic neuropathy v1.93 ZNHIT3 Ivone Leong Mode of inheritance for gene: ZNHIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.92 YME1L1 Ivone Leong Phenotypes for gene: YME1L1 were changed from to Optic atrophy 617302; sensorineural hearing impairment; ataxia; other CNS symptoms (OPA11)
Optic neuropathy v1.91 YME1L1 Ivone Leong Publications for gene: YME1L1 were set to
Optic neuropathy v1.90 YME1L1 Ivone Leong Mode of inheritance for gene: YME1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.89 TSFM Ivone Leong Phenotypes for gene: TSFM were changed from to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505
Optic neuropathy v1.88 TSFM Ivone Leong Publications for gene: TSFM were set to
Optic neuropathy v1.87 TSFM Ivone Leong Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.86 TBC1D20 Ivone Leong Phenotypes for gene: TBC1D20 were changed from to WARBURG MICRO SYNDROME 4 615663
Optic neuropathy v1.85 TBC1D20 Ivone Leong Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.23 SNTA1 Matthew Edwards reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.84 SPG7 Ivone Leong Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Optic neuropathy v1.83 SPG7 Ivone Leong Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.82 SDHA Ivone Leong Phenotypes for gene: SDHA were changed from to Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011
Optic neuropathy v1.81 SDHA Ivone Leong Publications for gene: SDHA were set to
Optic neuropathy v1.80 SDHA Ivone Leong Mode of inheritance for gene: SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.79 RAB3GAP1 Ivone Leong Phenotypes for gene: RAB3GAP1 were changed from to WARBURG MICRO SYNDROME 1, 600118
Optic neuropathy v1.78 RAB3GAP1 Ivone Leong Publications for gene: RAB3GAP1 were set to
Optic neuropathy v1.77 RAB3GAP1 Ivone Leong Mode of inheritance for gene: RAB3GAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.76 NEFH Ivone Leong Phenotypes for gene: NEFH were changed from to CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924
Optic neuropathy v1.75 NEFH Ivone Leong Mode of inheritance for gene: NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.74 NDUFS3 Ivone Leong Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8, 618230
Optic neuropathy v1.73 NDUFS3 Ivone Leong Publications for gene: NDUFS3 were set to
Optic neuropathy v1.72 NDUFS3 Ivone Leong Mode of inheritance for gene: NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.71 NDUFS2 Ivone Leong Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, 618228
Optic neuropathy v1.70 NDUFS2 Ivone Leong Publications for gene: NDUFS2 were set to
Optic neuropathy v1.69 NDUFS2 Ivone Leong Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.68 NDUFS1 Ivone Leong Phenotypes for gene: NDUFS1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226
Optic neuropathy v1.67 NDUFS1 Ivone Leong Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.66 MTPAP Ivone Leong Phenotypes for gene: MTPAP were changed from to SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
Optic neuropathy v1.65 MTPAP Ivone Leong Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ5 Matthew Edwards reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 ANK2 Matthew Edwards reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.64 LYST Ivone Leong Publications for gene: LYST were set to PMID: 26307451
Optic neuropathy v1.63 KIF7 Ivone Leong Phenotypes for gene: KIF7 were changed from to ACROCALLOSAL SYNDROME, 200990
Optic neuropathy v1.62 KIF7 Ivone Leong Mode of inheritance for gene: KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.61 GP1BA Ivone Leong Mode of inheritance for gene: GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.60 FXN Ivone Leong Phenotypes for gene: FXN were changed from to Friedreich ataxia (FRDA), 229300
Optic neuropathy v1.59 FXN Ivone Leong Publications for gene: FXN were set to
Optic neuropathy v1.58 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.57 DNAJC19 Ivone Leong Phenotypes for gene: DNAJC19 were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198
Optic neuropathy v1.56 DNAJC19 Ivone Leong Publications for gene: DNAJC19 were set to
Optic neuropathy v1.55 DNAJC19 Ivone Leong Mode of inheritance for gene: DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.54 AUH Ivone Leong Phenotypes for gene: AUH were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950
Optic neuropathy v1.53 AUH Ivone Leong Mode of inheritance for gene: AUH was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.52 ATAD3A Ivone Leong Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome: optic atrophy, peripheral neuropathy, delayed psychomotor development, intellectual disability, spastic paraplegia (HAYOS), 617183
Optic neuropathy v1.51 ATAD3A Ivone Leong Publications for gene: ATAD3A were set to
Optic neuropathy v1.50 ATAD3A Ivone Leong Mode of inheritance for gene: ATAD3A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.49 ALG3 Ivone Leong Phenotypes for gene: ALG3 were changed from to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110
Optic neuropathy v1.48 ALG3 Ivone Leong Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.47 POLG Ivone Leong Phenotypes for gene: POLG were changed from to PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
Optic neuropathy v1.46 POLG Ivone Leong Mode of inheritance for gene: POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.45 MFF Ivone Leong Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Optic neuropathy v1.44 MFF Ivone Leong Publications for gene: MFF were set to
Optic neuropathy v1.43 MFF Ivone Leong Mode of inheritance for gene: MFF was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.42 DNM1L Ivone Leong Phenotypes for gene: DNM1L were changed from to OPTIC ATROPHY 5, 610708
Optic neuropathy v1.41 DNM1L Ivone Leong Publications for gene: DNM1L were set to
Optic neuropathy v1.40 DNM1L Ivone Leong Mode of inheritance for gene: DNM1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.39 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from to WOLFRAM SYNDROME 2, 604928
Optic neuropathy v1.38 CISD2 Ivone Leong Mode of inheritance for gene: CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.37 C19orf12 Ivone Leong Phenotypes for gene: C19orf12 were changed from to SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298
Optic neuropathy v1.36 C19orf12 Ivone Leong Publications for gene: C19orf12 were set to
Optic neuropathy v1.35 C19orf12 Ivone Leong Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.34 C12orf65 Ivone Leong Phenotypes for gene: C12orf65 were changed from to SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035
Optic neuropathy v1.33 C12orf65 Ivone Leong Publications for gene: C12orf65 were set to
Optic neuropathy v1.32 C12orf65 Ivone Leong Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.31 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from to SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487; SPINOCEREBELLAR ATAXIA 28, 610246
Optic neuropathy v1.30 AFG3L2 Ivone Leong Publications for gene: AFG3L2 were set to
Optic neuropathy v1.29 AFG3L2 Ivone Leong Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 ZNHIT3 Tom Cullup reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020; Phenotypes: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 YME1L1 Tom Cullup reviewed gene: YME1L1: Rating: RED; Mode of pathogenicity: ; Publications: 30544562; Phenotypes: Optic atrophy 617302, sensorineural hearing impairment, ataxia, other CNS symptoms (OPA11); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 TSFM Tom Cullup reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: 25037205; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 TBC1D20 Tom Cullup reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WARBURG MICRO SYNDROME 4 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 SDHA Tom Cullup reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: 27683074; Phenotypes: Leigh syndrome, 256000, mitochondrial respiratory chain complex II deficiency 252011; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 RAB3GAP1 Tom Cullup reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: ; Publications: 26421802; Phenotypes: WARBURG MICRO SYNDROME 1, 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 NEFH Tom Cullup reviewed gene: NEFH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.28 NDUFS3 Tom Cullup reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: ; Publications: 14729820; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS2 Tom Cullup reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: ; Publications: 28031252; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS1 Tom Cullup reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 MTPAP Tom Cullup reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 LYST Tom Cullup reviewed gene: LYST: Rating: RED; Mode of pathogenicity: ; Publications: 26307451, 23521865; Phenotypes: Optic neuropathy in late-onset neurodegenerative Ch diak Higashi syndrome lacking features of ocular albinism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 KIF7 Tom Cullup reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ACROCALLOSAL SYNDROME, 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 GP1BA Tom Cullup reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 FXN Tom Cullup reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: 19268652; Phenotypes: Friedreich ataxia (FRDA), 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 DNAJC19 Tom Cullup reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: 27054461, 16055927; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 AUH Tom Cullup reviewed gene: AUH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 ATAD3A Tom Cullup reviewed gene: ATAD3A: Rating: RED; Mode of pathogenicity: ; Publications: 27640307; Phenotypes: Harel-Yoon syndrome: optic atrophy, peripheral neuropathy, delayed psychomotor development, intellectual disability, spastic paraplegia (HAYOS), 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 ALG3 Tom Cullup reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 WFS1 Tom Cullup reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 TMEM126A Tom Cullup reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19327736, 20405026, 22815638; Phenotypes: Optic Atrophy, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 TIMM8A Tom Cullup reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11803487; Phenotypes: deafness-dystonia-optic neuropathy syndrome, Mohr-Tranebjaerg syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Optic neuropathy v1.28 SPG7 Tom Cullup reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 SLC52A2 Tom Cullup reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243084, 22864630; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 SLC25A46 Tom Cullup reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168012, 28369803; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 RTN4IP1 Tom Cullup reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: early-onset recessive optic neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 POLG Tom Cullup reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 OPA3 Tom Cullup reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25159689, 26190011; Phenotypes: Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 OPA1 Tom Cullup reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Optic neuropathy v1.28 NR2F1 Tom Cullup reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410510, 28963436, 28654857, 26986877, 24462372, 23300014; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Optic neuropathy v1.28 MT-ND6 Tom Cullup reviewed gene: MT-ND6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 24884847, 24417559, 24398099; Phenotypes: Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ND4 Tom Cullup reviewed gene: MT-ND4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 20301353, 27159682, 26683077, 23805034, 23665487, 22553750; Phenotypes: Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ND1 Tom Cullup reviewed gene: MT-ND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 27449621, 20301353, 27177320, 24884847, 24800637, 23665487; Phenotypes: Optic neuropathy and nystagmus, External ophthalmoplegia, Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ATP6 Tom Cullup reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7726182, 10676807, 26448634, 26252090, 24118886 (functional evidence), 23266623; Phenotypes: Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MFN2 Tom Cullup reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26955893, 26306937, 21715711; Phenotypes: Optic Atrophy, Hereditary motor and sensory neuropathy VIA, Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087, Hereditary motor and sensory neuropathy VIA (AD), 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 MFF Tom Cullup reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 30581454, 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 DNM1L Tom Cullup reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 28969390; Phenotypes: OPTIC ATROPHY 5, 610708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.28 CISD2 Tom Cullup reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WOLFRAM SYNDROME 2, 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 C19orf12 Tom Cullup reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27772766, 26187298, 24209434, 22584950; Phenotypes: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 C12orf65 Tom Cullup reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28091420, 25995486; Phenotypes: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 ACO2 Tom Cullup reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, 616289, optic atrophy, nystagmus, Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 AFG3L2 Tom Cullup reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29181157, 26539208, 30544562; Phenotypes: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487, SPINOCEREBELLAR ATAXIA 28, 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.27 ZNHIT3 Ivone Leong gene: ZNHIT3 was added
gene: ZNHIT3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to
Optic neuropathy v1.27 YME1L1 Ivone Leong gene: YME1L1 was added
gene: YME1L1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: YME1L1 was set to
Optic neuropathy v1.27 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSFM was set to
Optic neuropathy v1.27 TBC1D20 Ivone Leong gene: TBC1D20 was added
gene: TBC1D20 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TBC1D20 was set to
Optic neuropathy v1.27 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHA was set to
Optic neuropathy v1.27 RAB3GAP1 Ivone Leong gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RAB3GAP1 was set to
Optic neuropathy v1.27 NEFH Ivone Leong gene: NEFH was added
gene: NEFH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEFH was set to
Optic neuropathy v1.27 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to
Optic neuropathy v1.27 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS2 was set to
Optic neuropathy v1.27 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS1 was set to
Optic neuropathy v1.27 MTPAP Ivone Leong gene: MTPAP was added
gene: MTPAP was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTPAP was set to
Optic neuropathy v1.27 LYST Ivone Leong Source London North GLH was added to LYST.
Optic neuropathy v1.27 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIF7 was set to
Optic neuropathy v1.27 GP1BA Ivone Leong Source London North GLH was added to GP1BA.
Optic neuropathy v1.27 FXN Ivone Leong gene: FXN was added
gene: FXN was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FXN was set to
Optic neuropathy v1.27 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAJC19 was set to
Optic neuropathy v1.27 AUH Ivone Leong gene: AUH was added
gene: AUH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AUH was set to
Optic neuropathy v1.27 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATAD3A was set to
Optic neuropathy v1.27 ALG3 Ivone Leong gene: ALG3 was added
gene: ALG3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG3 was set to
Optic neuropathy v1.27 WFS1 Ivone Leong Source London North GLH was added to WFS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 TMEM126A Ivone Leong Source London North GLH was added to TMEM126A.
Optic neuropathy v1.27 TIMM8A Ivone Leong Source London North GLH was added to TIMM8A.
Optic neuropathy v1.27 SPG7 Ivone Leong Source London North GLH was added to SPG7.
Optic neuropathy v1.27 SLC52A2 Ivone Leong Source London North GLH was added to SLC52A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 SLC25A46 Ivone Leong Source London North GLH was added to SLC25A46.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 RTN4IP1 Ivone Leong Source London North GLH was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: POLG was set to
Optic neuropathy v1.27 OPA3 Ivone Leong Source London North GLH was added to OPA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 OPA1 Ivone Leong Source London North GLH was added to OPA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 NR2F1 Ivone Leong Source London North GLH was added to NR2F1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND6 Ivone Leong Source London North GLH was added to MT-ND6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND4 Ivone Leong Source London North GLH was added to MT-ND4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND1 Ivone Leong Source London North GLH was added to MT-ND1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ATP6 Ivone Leong Source London North GLH was added to MT-ATP6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MFN2 Ivone Leong Source London North GLH was added to MFN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MFF Ivone Leong gene: MFF was added
gene: MFF was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: MFF was set to
Optic neuropathy v1.27 DNM1L Ivone Leong gene: DNM1L was added
gene: DNM1L was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: DNM1L was set to
Optic neuropathy v1.27 CISD2 Ivone Leong gene: CISD2 was added
gene: CISD2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: CISD2 was set to
Optic neuropathy v1.27 C19orf12 Ivone Leong gene: C19orf12 was added
gene: C19orf12 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: C19orf12 was set to
Optic neuropathy v1.27 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: C12orf65 was set to
Optic neuropathy v1.27 ACO2 Ivone Leong Source London North GLH was added to ACO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: AFG3L2 was set to
Long QT syndrome v1.23 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29798782; Phenotypes: Atrial fibrillation, familial, 10 614022, Brugada syndrome 1 601144, Cardiomyopathy, dilated, 1E 601154, Heart block, nonprogressive 113900, Heart block, progressive, type IA 113900, Long QT syndrome-3 603830, Sick sinus syndrome 1 608567, Ventricular fibrillation, familial, 1 603829, Sudden infant death syndrome, susceptibility to272120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNQ1 Matthew Edwards reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LQTS-1 (192500), SQTS 2 (609621), JLNS (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ2 Matthew Edwards reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen Tawil syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNH2 Matthew Edwards reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNE2 Matthew Edwards reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNE1 Matthew Edwards reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716085; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 CACNA1C Matthew Edwards reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 18250309, 25633834, 24728418; Phenotypes: Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Deleted their comment
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Classified gene: TP53 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Classified gene: TP53 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Gene: tp53 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.43 TERT Louise Daugherty Publications for gene: TERT were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.42 TERT Louise Daugherty Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid} to 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Classified gene: TERT as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Gene: tert has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Classified gene: RUNX1 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Gene: runx1 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.39 RUNX1 Louise Daugherty Publications for gene: RUNX1 were set to 19357396; 23926458; 11830488
Inherited predisposition to acute myeloid leukaemia (AML) v0.38 GATA2 Louise Daugherty Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID) to 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to}
Inherited predisposition to acute myeloid leukaemia (AML) v0.37 GATA2 Louise Daugherty Publications for gene: GATA2 were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Classified gene: GATA2 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Gene: gata2 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.35 ANKRD26 Louise Daugherty Publications for gene: ANKRD26 were set to 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.34 CEBPA Louise Daugherty Publications for gene: CEBPA were set to 15575056; 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.33 DDX41 Louise Daugherty Publications for gene: DDX41 were set to 25920683; 2671290930466750; 27895058; 27069254
Inherited predisposition to acute myeloid leukaemia (AML) v0.32 DDX41 Louise Daugherty Publications for gene: DDX41 were set to 25920683; 26712909
Inherited predisposition to acute myeloid leukaemia (AML) v0.31 ETV6 Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic
Inherited predisposition to acute myeloid leukaemia (AML) v0.30 ETV6 Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 / 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic
Inherited predisposition to acute myeloid leukaemia (AML) v0.29 TERC Louise Daugherty Phenotypes for gene: TERC were changed from 127550 (OMIM phenotype description ID); 614743 {Aplastic anemia}; 127550 / 614743 {Aplastic anemia} to Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743
Inherited predisposition to acute myeloid leukaemia (AML) v0.28 TERC Louise Daugherty Publications for gene: TERC were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Classified gene: ANKRD26 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Gene: ankrd26 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Classified gene: SAMD9 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Gene: samd9 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Classified gene: RTEL1 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Classified gene: ACD as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Gene: acd has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.23 TERC Louise Daugherty Classified gene: TERC as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.23 TERC Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.23 TERC Louise Daugherty Gene: terc has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.22 SRP72 Louise Daugherty Classified gene: SRP72 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.22 SRP72 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.22 SRP72 Louise Daugherty Gene: srp72 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.21 ETV6 Louise Daugherty Classified gene: ETV6 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.21 ETV6 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.21 ETV6 Louise Daugherty Gene: etv6 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.20 CHEK2 Louise Daugherty Classified gene: CHEK2 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.20 CHEK2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.20 CHEK2 Louise Daugherty Gene: chek2 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 CHEK2 Louise Daugherty Deleted their comment
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 DDX41 Louise Daugherty Classified gene: DDX41 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 DDX41 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 DDX41 Louise Daugherty Gene: ddx41 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.18 CHEK2 Louise Daugherty Classified gene: CHEK2 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.18 CHEK2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.18 CHEK2 Louise Daugherty Gene: chek2 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Classified gene: CEBPA as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Gene: cebpa has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Classified gene: PTPN11 as Red List (low evidence)
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red. This gene is associated to Noonan syndrome
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Gene: ptpn11 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Classified gene: COL5A2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Classified gene: COL5A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.49 COL3A1 Louise Daugherty Classified gene: COL3A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.49 COL3A1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.49 COL3A1 Louise Daugherty Gene: col3a1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.48 COL1A1 Louise Daugherty Classified gene: COL1A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.48 COL1A1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.48 COL1A1 Louise Daugherty Gene: col1a1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Classified gene: CHST14 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Added comment: Comment on list classification: Discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: Rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Gene: chst14 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.46 THBD Louise Daugherty commented on gene: THBD: Use with caution when reporting variants outside the transmembrane domain
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Classified gene: THBD as Green List (high evidence)
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Gene: thbd has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Classified gene: SRC as Green List (high evidence)
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Gene: src has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Classified gene: SLC45A2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Gene: slc45a2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Classified gene: RBM8A as Green List (high evidence)
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Classified gene: PTPRJ as Amber List (moderate evidence)
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Classified gene: PTGS1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Classified gene: PLA2G4A as Green List (high evidence)
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Classified gene: NBEA as Green List (high evidence)
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Gene: nbea has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty commented on gene: KDSR: Note: this is associated to a clinically recognised phenotype characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Classified gene: KDSR as Green List (high evidence)
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Classified gene: ITGA2 as Red List (low evidence)
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red.
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Gene: itga2 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Classified gene: HOXA11 as Green List (high evidence)
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Classified gene: GNE as Green List (high evidence)
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Gene: gne has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Classified gene: FLNA as Amber List (moderate evidence)
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Gene: flna has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.33 ETV6 Louise Daugherty edited their review of gene: ETV6: Changed rating: AMBER
Bleeding and platelet disorders v0.33 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Changed rating: AMBER
Bleeding and platelet disorders v0.33 CDC42 Louise Daugherty edited their review of gene: CDC42: Changed rating: AMBER
Bleeding and platelet disorders v0.33 ACTB Louise Daugherty Mode of inheritance for gene: ACTB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty edited their review of gene: ACTB: Changed rating: AMBER
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Changed rating: AMBER
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Classified gene: ABCG8 as Green List (high evidence)
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Classified gene: F2R as Amber List (moderate evidence)
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Gene: f2r has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty edited their review of gene: EPHB2: Changed rating: AMBER
Fetal anomalies v0.132 CSNK2A1 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to include more informative OMIM phenotype (MIM:617062).
Fetal anomalies v0.132 CSNK2A1 Rebecca Foulger Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062 to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty commented on gene: ETV6: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Classified gene: ATAD3A as Green List (high evidence)
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team and the clinical team: Sufficient evidence has been provided by the external expert review for this gene to be rated green.
Other aspects of the phenotype may warrant for this gene to be included on alternative specific panels (i.e. intellectual disability); however, not enough evidence is available at the moment. Therefore, this gene has also been added to the "watchlist" so that more cases can be collected.
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Gene: atad3a has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Tag watchlist tag was added to gene: ATAD3A.
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Added comment: Comment on mode of pathogenicity: There is a recurrent missense variant thought to act in a dominant negative manner.
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Mode of pathogenicity for gene: ATAD3A was changed from None to Other
Undiagnosed metabolic disorders v1.93 ATAD3A Ivone Leong Added comment: Comment on mode of inheritance: As the carrier parents of the biallelic cases do not appear to have any phenotype, have given this a biallelic mode of inheritance.
Undiagnosed metabolic disorders v1.93 ATAD3A Ivone Leong Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.131 IGHMBP2 Rebecca Foulger Added comment: Comment on phenotypes: The disorder 'Neuronopathy, distal hereditary motor, type VI, 604320' is also called SMARD1 (SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1).
Fetal anomalies v0.131 IGHMBP2 Rebecca Foulger Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty edited their review of gene: ETV6: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty edited their review of gene: EPHB2: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 CDC42 Louise Daugherty edited their review of gene: CDC42: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 ACTB Louise Daugherty edited their review of gene: ACTB: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.3 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.3 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. 'Hereditary spastic paraplegia' is a component panel of 'Neurodegenerative disorders - adult onset'.
Adult onset neurodegenerative disorder v1.3 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Fetal anomalies v0.130 CSNK2A1 Rebecca Foulger Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062
Early onset or syndromic epilepsy v1.34 NBEA Ivone Leong Classified gene: NBEA as Green List (high evidence)
Early onset or syndromic epilepsy v1.34 NBEA Ivone Leong Gene: nbea has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.33 NBEA Ivone Leong gene: NBEA was added
gene: NBEA was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures; No OMIM number
Review for gene: NBEA was set to GREEN
Added comment: NBEA is not associated with any phenotypes in OMIM or Gene2Phenotype. However, there is sufficient evidence provided by Konstantinos Varvagiannis for this gene to be rated green.

Expert review from Konstantinos Varvagiannis: "PMID: 30269351 is a collaborative study reporting on 24 individuals with pathogenic de novo variants affecting NBEA. All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism. Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type. Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24. Among the variants identified: 8/24 were stopgain SNVs 5/24 were frameshift 4/24 were missense SNVs 1/24 was a splice site SNV 5/24 concerned an intragenic NBEA deletion 1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM). Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332). Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA). As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648). Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818). NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism. As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. // NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. // As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels."
Sources: Expert list
Intellectual disability v2.787 NBEA Ivone Leong Classified gene: NBEA as Green List (high evidence)
Intellectual disability v2.787 NBEA Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, there is sufficient evidence has been provided by the external expert review for this gene to be rated green. NBEA is not associated with any phenotypes on OMIM and Gene2Phenotype.
Intellectual disability v2.787 NBEA Ivone Leong Gene: nbea has been classified as Green List (High Evidence).
Fetal anomalies v0.129 C4orf26 Rebecca Foulger Added comment: Comment on phenotypes: Gene2Phenotype list the phenotype as 'AMYELOGENESIS' but this is most likely an error because the OMIM phenotype is 'Amelogenesis imperfecta, type IIA4'. Therefore removed 'AMYELOGENESIS' phenotype and replaced with 'Amelogenesis imperfecta' phenotype from OMIM and PMID:22901946.
Fetal anomalies v0.129 C4orf26 Rebecca Foulger Phenotypes for gene: C4orf26 were changed from AMYELOGENESIS to Amelogenesis imperfecta, type IIA4; 614832
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 NFIB Ivone Leong Classified gene: NFIB as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 NFIB Ivone Leong Gene: nfib has been classified as Green List (High Evidence).
Fetal anomalies v0.128 C4orf26 Rebecca Foulger Publications for gene: C4orf26 were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.43 NFIB Ivone Leong gene: NFIB was added
gene: NFIB was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, 618286
Review for gene: NFIB was set to GREEN
Added comment: NFIB is associated with a phenotype in OMIM and probably associated with a phenotype in Gene2Phenotype.
Expert review from Konstantinos Varvagiannis: "Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency. 10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described. Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID. Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex." -- copied from "Intellectual disability" panel (code: 285).
After discussion with the clinical team, it was decided that NFIB is relevant for the " Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders" panel and there is enough evidence to support a gene-disease association. Therefore, NFIB has been given a green gene rating.
Sources: Expert list
Intellectual disability v2.786 NFIB Ivone Leong Classified gene: NFIB as Amber List (moderate evidence)
Intellectual disability v2.786 NFIB Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, it was decided to give NFIB an amber gene rating. Although ID was reported the severity is mild-moderate and on this basis, not considered appropriate for green status on the ID panel. NFIB is associated with a phenotype in OMIM and is probably associated with a phenotype on Gene2Phenotypes. The "Autism Spectrum Disorder" and "watchlist" tags have also been added.
Intellectual disability v2.786 NFIB Ivone Leong Gene: nfib has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.785 NFIB Ivone Leong Tag watchlist tag was added to gene: NFIB.
Tag Autism Spectrum Disorder tag was added to gene: NFIB.
Intellectual disability v2.785 NR4A2 Ivone Leong Tag watchlist tag was added to gene: NR4A2.
Tag Autism Spectrum Disorder tag was added to gene: NR4A2.
Intellectual disability v2.785 NR4A2 Ivone Leong Classified gene: NR4A2 as Amber List (moderate evidence)
Intellectual disability v2.785 NR4A2 Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, it was decided to give NR4A2 an amber gene rating. Although ID was reported the severity is mild-moderate and on this basis, not considered appropriate for green status on the ID panel. The "Autism Spectrum Disorder" tag has also been added.
Intellectual disability v2.785 NR4A2 Ivone Leong Gene: nr4a2 has been classified as Amber List (Moderate Evidence).
DDG2P v1.8 FBXW4 Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other
Early onset or syndromic epilepsy v1.32 MPDU1 Rebecca Foulger Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, 609180 to Congenital disorder of glycosylation, type If, 609180; seizures
Early onset or syndromic epilepsy v1.31 KMT2E Konstantinos Varvagiannis gene: KMT2E was added
gene: KMT2E was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2E were set to https://doi.org/10.1101/566091
Phenotypes for gene: KMT2E were set to Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of skull size
Penetrance for gene: KMT2E were set to unknown
Review for gene: KMT2E was set to GREEN
Added comment: Gene added in the ID panel (comments below). Epilepsy was a feature in - at least - 11 individuals (with all categories of variants : 4 with truncating, 3 with CNVs, 4 with missense SNVs). As a result this gene can be considered for inclusion in the current panel as green (or amber).

From the ID panel :

In a collaborative study, O'Donnell-Luria et al. (2019 - https://doi.org/10.1101/566091 - DDD study among the co-authors) report on 38 individuals from 36 families with heterozygous KMT2E variants. Some of these individuals were previously included in previous publications.

Developmental delay, intellectual disability, epilepsy and ASD were among the features reported, albeit of variable degree and not universal.

34 of 38 individuals had SNVs or indel variants in KMT2E and 4 individuals had CNVs spanning KMT2E (in one case intragenic, in 3 further as a contiguous gene deletion).

For 26 (of 38 individuals) the variant had arisen as a de novo event while in some cases parental sample(s) was/were unavailable to confirm the de novo occurrence or origin (from a reportedly affected parent). The variant in one family was inherited from a parent for whom information on affected/unaffected status was unavailable.

As for the variants reported: 30 were protein-truncating (of which 23 predicted to produce transcripts subject to NMD). 4 were missense. 4 were CNVs (de novo deletions, of which 1 intragenic).

Truncating variants and deletions of KMT2E suggest haploinsufficiency as the underlying mechanism for this category of variants (KMT2E has a pLI of 1 in gnomAD).

However, the somewhat different phenotype related to missense variants (degree of ID, epilepsy in all, microcephaly in some versus macrocephaly in subjects with truncating variants) may suggest a different mechanism for these variants eg. gain of function or dominant negative effect. There was no clustering observed for the missense variants reported.

Expressivity of certain features may be variable between males and females.

As the authors note : KMT2E encodes a member of the lysine N-methyltransferase 2 family, a family of enzymes with critical role in H3K4 methylation. It is highly expressed in brain, particularly during fetal development. Several monogenic neurodevelopmental disorders due to impaired regulation of H3K4 methylation are known (eg. due to KMT2D/C/B/A mutations, etc). Studies suggest that KMT2E may lack intrinsic methyltransferase activity although it may have an indirect effect on H3K4 methylation. In contrast to other members of the KMT2 family functioning as global activators of open chromatin, KMT2E is believed to be a repressor (although it's function in gene transcription regulation needs to be clarified).

A neurological phenotype of Kmt2e (Mll5) deficiency mouse models has not been reported (features included growth restriction, impaired hematopoiesis, etc).

KMT2E is not associated with any phenotype in OMIM. The gene is included in the DD panel of G2P, associated with Intellectual disability (disease confidence: confirmed / mutation consequence registered in the db : LoF).
KMT2E is included in gene panels for ID offered by some diagnostic laboratories (eg. among those participating in the study).

As a result, this gene can be considered for upgrade to green (or amber).
Sources: Literature
Intellectual disability v2.784 KMT2E Konstantinos Varvagiannis reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1101/56609; Phenotypes: Global developmental delay, Intellectual disability, Autism, Seizures, Abnormality of skull size; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.784 FARS2 Konstantinos Varvagiannis gene: FARS2 was added
gene: FARS2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 30869852
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946; Spastic paraplegia 77, autosomal recessive, 617046
Penetrance for gene: FARS2 were set to Complete
Review for gene: FARS2 was set to GREEN
gene: FARS2 was marked as current diagnostic
Added comment: PMID: 30869852 (Almannai et al, 2019) is a review on FARS2 deficiency.

DD/ID and seizures are observed in both infantile- and later-onset forms of the disorder (FARS2-related infantile-onset epileptic mitochondrial encephalopathy and FARS2-related later-onset spastic paraplegia respectively). The phenotype of 26 individuals (from 19 families) and 11 individuals (from 6 families) with infantile and later-onset FARS2 deficiency is summarized in table 2. As commented by the authors, pathogenic variants may include missense, nonsense, splice-site variants, small indels as well as larger deletions/duplications (table 1 and footnote).

The relevant OMIM entries are the following: Combined oxidative phosphorylation deficiency 14 (MIM 614946) and Spastic paraplegia 77, autosomal recessive (MIM 617046).

FARS2 is included in the DD panel of G2P, associated with Neurometabolic disorder due to FARS2 deficiency (disease confidence: confirmed).

This gene is included in gene panels for ID offered by some diagnostic laboratories.

As a result, FARS2 can be considered for inclusion in the ID panel as green (or amber)
Sources: Literature
Intellectual disability v2.784 BRSK2 Konstantinos Varvagiannis gene: BRSK2 was added
gene: BRSK2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRSK2 were set to https://doi.org/10.1016/j.ajhg.2019.02.002
Phenotypes for gene: BRSK2 were set to Global developmental delay; Intellectual disability; Autism; Behavioral abnormality
Penetrance for gene: BRSK2 were set to unknown
Review for gene: BRSK2 was set to GREEN
gene: BRSK2 was marked as current diagnostic
Added comment: Hiatt et al. (2019 - https://doi.org/10.1016/j.ajhg.2019.02.002) report on 9 individuals, each with private heterozygous BRSK2 variant.

Features included among others speech or motor delay, ID (8/9), ASD and variable behavioral anomalies.

6 variants predicted LoF (stopgain, frameshift or affecting splice-site) while 3 additional ones were missense (2 in the protein kinase domain and 1 in the kinase-associated 1 domain). In 6 individuals the variant had occurred as a de novo event while for 3 others parental samples were unavailable. Given the unknown inheritance, a single variant did not meet sufficient ACMG criteria to be classified as P/LP.

All variants had in silico predictions supporting a deleterious effect and were absent from bravo database and gnomAD, where the gene appears to be relatively intolerant to protein-altering variation.

As the authors note BRSK2 encodes a serine/threonine protein kinase involved in axonogenesis and polarization of cortical neurons. Although Brsk2- (or Brsk1-) knockout mice appear to be healthy and fertile, double knockouts for these genes resulted in pups with decreased spontaneous movement, poor response to tactile stimulation that died shortly after birth. In mice Brsk2 (and Brsk1) expression is restricted to the nervous system (PMID cited by the authors: 15705853) while in humans this gene is most highly expressed in brain (PMID cited: 23715323 - GTEx project).

BRSK2 has been shown to interact with other neurodevelopmental genes eg. TSC2, PTEN, WDR45.

Within the cohort of individuals studied, there was statistically significant enrichment for de novo BRSK2 variants when compared to the estimated backround mutation rate.

Two further BRSK2 de novo protein-altering variants were previously reported in individuals with neurodevelopmental disorders (Iossifov et al. - PMID: 25363768 and DDD study - PMID: 28135719) although the missense variant in the latter study is also present in gnomAD database.

BRSK2 is not associated with any phenotype in OMIM, nor in G2P.
The gene is included in gene panels for ID offered by some diagnostic laboratories (eg. among those participating in the study).

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.784 SMARCD1 Konstantinos Varvagiannis reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.ajhg.2019.02.001; Phenotypes: Generalized hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Abnormality of the hand, Abnormality of the foot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bardet Biedl syndrome v0.19 TTC8 Ivone Leong Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985; Bardet Biedl syndrome 8, 615985 to Bardet-Biedl syndrome 8, 615985
Bardet Biedl syndrome v0.18 SDCCAG8 Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl Syndrome, 615993; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Bardet Biedl syndrome v0.17 MKKS Ivone Leong Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6, 605231; Bardet Biedl syndrome 6, 236700; McKusick-Kaufman syndrome, 236700 to Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700
Bardet Biedl syndrome v0.16 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Bardet Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9, 615986 to Bardet Biedl syndrome 9, 615986
Bardet Biedl syndrome v0.15 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984; Bardet Biedl syndrome 7, 615984 to Bardet-Biedl syndrome 7, 615984
Bardet Biedl syndrome v0.14 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Bardet Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5, 615983 to Bardet Biedl syndrome 5, 615983
Bardet Biedl syndrome v0.13 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982; Bardet Biedl syndrome 4, 615982 to Bardet-Biedl syndrome 4, 615982
Bardet Biedl syndrome v0.12 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981; Bardet Biedl syndrome 2, 615981 to Bardet-Biedl syndrome 2, 615981
Bardet Biedl syndrome v0.11 C8orf37 Tom Cullup reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: Heon et al 2016 PMID: 27008867, Estrada-Cuzcano et al 2012 PMID: 22177090; Phenotypes: Bardet-Biedl syndrome 21 617406, Cone-rod dystrophy 16, Retinitis pigmentosa 64 614500 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 IFT74 Tom Cullup reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: ; Publications: Lindstrand et al 2016 PMID 27486776; Phenotypes: ?Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 IFT27 Tom Cullup reviewed gene: IFT27: Rating: RED; Mode of pathogenicity: ; Publications: Aldahmesh et al 2014 PMID: 24488770; Phenotypes: ?Bardet-Biedl syndrome 19 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBIP1 Tom Cullup reviewed gene: BBIP1: Rating: RED; Mode of pathogenicity: ; Publications: Scheidecker et al 2014 PMID: 24026985; Phenotypes: ?Bardet-Biedl syndrome 18 615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 LZTFL1 Tom Cullup reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: Marion et al 2012 PMID: 22510444; Phenotypes: Bardet-Biedl syndrome 17 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 SDCCAG8 Tom Cullup reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: Otto et al 2010 PMID: 20835237; Phenotypes: Bardet-Biedl syndrome 16 615993, Senior-Loken syndrome 7 613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 WDPCP Tom Cullup reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: Kim et al 2010 PMID: 20671153; Phenotypes: ?Bardet-Biedl syndrome 15 615992, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 CEP290 Tom Cullup reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Valente et al 2006 PMID: 16682970, den Hollander et al 2006 PMID: 16909394, Baala et al 2007 PMID: 17160906, Sayer et al 2006 PMID: 16682973; Phenotypes: Bardet-Biedl syndrome 14 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10 611755, Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 MKS1 Tom Cullup reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Kyttala et al 2006 PMID: 16415886, Romani et al 2014 PMID, 24886560; Phenotypes: Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28 617121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS12 Tom Cullup reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2007 PMID: 17160889; Phenotypes: Bardet-Biedl syndrome 12 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 TRIM32 Tom Cullup reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: Chiang et al 2006 PMID: 16606853, Frosk et al 2002 PMID: 11822024; Phenotypes: ?Bardet-Biedl syndrome 11 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS10 Tom Cullup reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2006 PMID: 16582908; Phenotypes: Bardet-Biedl syndrome 10 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS9 Tom Cullup reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 16380913; Phenotypes: Bardet-Biedl syndrome 9 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 TTC8 Tom Cullup reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: Ansley et al 2003 PMID: 14520415; Phenotypes: Bardet-Biedl syndrome 8 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS7 Tom Cullup reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: Badano et al PMID: 12567324; Phenotypes: Bardet-Biedl syndrome 7 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 MKKS Tom Cullup reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: Katsanis et al 2000 PMID: 10973251, Stone et al 2000 PMID: 10802661; Phenotypes: Bardet-Biedl syndrome 6 605231, McKusick-Kaufman syndrome 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS5 Tom Cullup reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: Li et al 2004 PMID: 15137946; Phenotypes: Bardet-Biedl syndrome 5 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS4 Tom Cullup reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2001 PMID: 11381270; Phenotypes: Bardet-Biedl syndrome 4 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 ARL6 Tom Cullup reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: Chiang et al 2004 PMID: 15258860, Fan et al 2004 PMID: 15314642; Phenotypes: Bardet-Biedl syndrome 3 600151, ?Retinitis pigmentosa 55 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS2 Tom Cullup reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 11285252; Phenotypes: Bardet-Biedl syndrome 2 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS1 Tom Cullup reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2002 PMID: 12118255; Phenotypes: Bardet-Biedl syndrome 1 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.10 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from Bardet Biedl syndrome 12, 615989; Bardet-Biedl syndrome 12, 615989 to Bardet Biedl syndrome 12, 615989
Bardet Biedl syndrome v0.9 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from Bardet Biedl syndrome 10, 615987; Bardet-Biedl syndrome 10, 615987 to Bardet Biedl syndrome 10, 615987
Bardet Biedl syndrome v0.8 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900; Bardet Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1, 209900
Bardet Biedl syndrome v0.7 ARL6 Ivone Leong Phenotypes for gene: ARL6 were changed from ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3, 600151 to ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151
Bardet Biedl syndrome v0.6 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Added phenotypes Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 for gene: C8orf37
Publications for gene C8orf37 were changed from 26854863; 27008867 to 22177090; 27008867
Bardet Biedl syndrome v0.6 IFT74 Ivone Leong Source NHS GMS was added to IFT74.
Added phenotypes ?Bardet-Biedl syndrome 20, 617119 for gene: IFT74
Bardet Biedl syndrome v0.6 IFT27 Ivone Leong Source NHS GMS was added to IFT27.
Added phenotypes ?Bardet-Biedl syndrome 19, 615996 for gene: IFT27
Publications for gene IFT27 were changed from to 24488770
Bardet Biedl syndrome v0.6 BBIP1 Ivone Leong Source NHS GMS was added to BBIP1.
Added phenotypes ?Bardet-Biedl syndrome 18, 615995 for gene: BBIP1
Bardet Biedl syndrome v0.6 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Publications for gene LZTFL1 were changed from to 22510444
Bardet Biedl syndrome v0.6 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Publications for gene SDCCAG8 were changed from to 20835237
Bardet Biedl syndrome v0.6 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP
Publications for gene WDPCP were changed from to 20671153
Bardet Biedl syndrome v0.6 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Bardet Biedl syndrome. Sources: NHS GMS
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to 20177705; 17160906; 16682973; 16682970; 16909394
Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134
Bardet Biedl syndrome v0.6 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000; Joubert syndrome 28, 617121 for gene: MKS1
Publications for gene MKS1 were changed from to 16415886; 20177705; 4886560
Bardet Biedl syndrome v0.6 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Added phenotypes Bardet-Biedl syndrome 12, 615989 for gene: BBS12
Publications for gene BBS12 were changed from to 17160889
Bardet Biedl syndrome v0.6 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
Bardet Biedl syndrome v0.6 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10
Publications for gene BBS10 were changed from to 16582908
Bardet Biedl syndrome v0.6 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9
Publications for gene BBS9 were changed from to 16380913
Bardet Biedl syndrome v0.6 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Added phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Publications for gene TTC8 were changed from to 14520415
Bardet Biedl syndrome v0.6 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Added phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7
Publications for gene BBS7 were changed from to 12567324
Bardet Biedl syndrome v0.6 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Publications for gene MKKS were changed from to 10973251; 10802661
Bardet Biedl syndrome v0.6 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Added phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5
Publications for gene BBS5 were changed from to 15137946
Bardet Biedl syndrome v0.6 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4
Publications for gene BBS4 were changed from to 11381270
Bardet Biedl syndrome v0.6 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Added phenotypes ?Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 600151 for gene: ARL6
Publications for gene ARL6 were changed from to 15314642; 15258860
Bardet Biedl syndrome v0.6 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Added phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2
Publications for gene BBS2 were changed from to 11285252
Bardet Biedl syndrome v0.6 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1
Publications for gene BBS1 were changed from to 12118255
Hypogonadotropic hypogonadism (GMS) v0.5 TFR2 Martina Owens reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 SOX10 Martina Owens reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 SLC40A1 Martina Owens reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 PROP1 Martina Owens reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 NR0B1 Martina Owens reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 LHX4 Martina Owens reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 HFE Martina Owens reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 HAMP Martina Owens reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 GLI2 Martina Owens reviewed gene: GLI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 CUL4B Martina Owens reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 WDR11 Martina Owens reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 TACR3 Martina Owens reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 TAC3 Martina Owens reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 SOX2 Martina Owens reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 SLC29A3 Martina Owens reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 PROKR2 Martina Owens reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 PROK2 Martina Owens reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 NSMF Martina Owens reviewed gene: NSMF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 LHB Martina Owens reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 KISS1R Martina Owens reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 IL17RD Martina Owens reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 GNRHR Martina Owens reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 GNRH1 Martina Owens reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 FSHB Martina Owens reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 FGFR1 Martina Owens reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 FGF8 Martina Owens reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 FEZF1 Martina Owens reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 DCAF17 Martina Owens reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 CHD7 Martina Owens reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.5 ANOS1 Martina Owens reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.4 WDR11 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 14 (OMIM 614858) for gene: WDR11
Hypogonadotropic hypogonadism (GMS) v0.4 TFR2 Ivone Leong Added phenotypes Haemochromatosis type 3 (OMIM 604250) for gene: TFR2
Hypogonadotropic hypogonadism (GMS) v0.4 TACR3 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 11(OMIM 614840) for gene: TACR3
Hypogonadotropic hypogonadism (GMS) v0.4 TAC3 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 10(OMIM 614839) for gene: TAC3
Hypogonadotropic hypogonadism (GMS) v0.4 SOX2 Ivone Leong Added phenotypes Syndromic Microphthalmia type 3 (OMIM 206900) for gene: SOX2
Hypogonadotropic hypogonadism (GMS) v0.4 SOX10 Ivone Leong Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10
Hypogonadotropic hypogonadism (GMS) v0.4 SLC40A1 Ivone Leong Added phenotypes Haemochromatosis type 4 (OMIM 606069) for gene: SLC40A1
Hypogonadotropic hypogonadism (GMS) v0.4 SLC29A3 Ivone Leong Added phenotypes Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism for gene: SLC29A3
Hypogonadotropic hypogonadism (GMS) v0.4 PROP1 Ivone Leong Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262600) for gene: PROP1
Hypogonadotropic hypogonadism (GMS) v0.4 PROKR2 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 3 (OMIM 244200) for gene: PROKR2
Hypogonadotropic hypogonadism (GMS) v0.4 PROK2 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 4 (OMIM 610628) for gene: PROK2
Hypogonadotropic hypogonadism (GMS) v0.4 NSMF Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 9 (OMIM 614838) for gene: NSMF
Hypogonadotropic hypogonadism (GMS) v0.4 NR0B1 Ivone Leong Added phenotypes 46XY sex reversal type 2 (OMIM 300018) for gene: NR0B1
Hypogonadotropic hypogonadism (GMS) v0.4 LHX4 Ivone Leong Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262700) for gene: LHX4
Hypogonadotropic hypogonadism (GMS) v0.4 LHB Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 23 (OMIM 228300) for gene: LHB
Hypogonadotropic hypogonadism (GMS) v0.4 KISS1R Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 8 (OMIM 614837) for gene: KISS1R
Hypogonadotropic hypogonadism (GMS) v0.4 IL17RD Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 18 (OMIM 615267) for gene: IL17RD
Hypogonadotropic hypogonadism (GMS) v0.4 HFE Ivone Leong Added phenotypes Haemochromatosis type 1 (OMIM 235200) for gene: HFE
Hypogonadotropic hypogonadism (GMS) v0.4 HAMP Ivone Leong Added phenotypes Haemochromatosis type 2B (OMIM 613313) for gene: HAMP
Hypogonadotropic hypogonadism (GMS) v0.4 GNRHR Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 7 (OMIM 146110) for gene: GNRHR
Hypogonadotropic hypogonadism (GMS) v0.4 GNRH1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 12 (OMIM 614841) for gene: GNRH1
Hypogonadotropic hypogonadism (GMS) v0.4 GLI2 Ivone Leong Added phenotypes Culler-Jones syndrome (OMIM 615849) for gene: GLI2
Hypogonadotropic hypogonadism (GMS) v0.4 FSHB Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 24 (OMIM 229070) for gene: FSHB
Hypogonadotropic hypogonadism (GMS) v0.4 FGFR1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 2(OMIM 147950) for gene: FGFR1
Hypogonadotropic hypogonadism (GMS) v0.4 FGF8 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 6 (OMIM 612702) for gene: FGF8
Hypogonadotropic hypogonadism (GMS) v0.4 FEZF1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 22 (OMIM 616030) for gene: FEZF1
Hypogonadotropic hypogonadism (GMS) v0.4 DCAF17 Ivone Leong Added phenotypes Woodhouse-Sakati syndrome (OMIM 241080) for gene: DCAF17
Hypogonadotropic hypogonadism (GMS) v0.4 CUL4B Ivone Leong Added phenotypes Syndromic X-linked mental retardation (OMIM 300354) for gene: CUL4B
Hypogonadotropic hypogonadism (GMS) v0.4 CHD7 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 5 (OMIM 612370) for gene: CHD7
Hypogonadotropic hypogonadism (GMS) v0.4 ANOS1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 1 (OMIM 308700) for gene: ANOS1
Hypogonadotropic hypogonadism (GMS) v0.3 WDR11 Ivone Leong gene: WDR11 was added
gene: WDR11 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism (GMS) v0.3 TFR2 Ivone Leong gene: TFR2 was added
gene: TFR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 TACR3 Ivone Leong gene: TACR3 was added
gene: TACR3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 TAC3 Ivone Leong gene: TAC3 was added
gene: TAC3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 SOX2 Ivone Leong gene: SOX2 was added
gene: SOX2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS) v0.3 SOX10 Ivone Leong gene: SOX10 was added
gene: SOX10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS) v0.3 SLC40A1 Ivone Leong gene: SLC40A1 was added
gene: SLC40A1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS) v0.3 SLC29A3 Ivone Leong gene: SLC29A3 was added
gene: SLC29A3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 PROP1 Ivone Leong gene: PROP1 was added
gene: PROP1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 PROKR2 Ivone Leong gene: PROKR2 was added
gene: PROKR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: PROKR2 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 PROK2 Ivone Leong gene: PROK2 was added
gene: PROK2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: PROK2 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 NSMF Ivone Leong gene: NSMF was added
gene: NSMF was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: NSMF was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 NR0B1 Ivone Leong gene: NR0B1 was added
gene: NR0B1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypogonadotropic hypogonadism (GMS) v0.3 LHX4 Ivone Leong gene: LHX4 was added
gene: LHX4 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS) v0.3 LHB Ivone Leong gene: LHB was added
gene: LHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 KISS1R Ivone Leong gene: KISS1R was added
gene: KISS1R was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 IL17RD Ivone Leong gene: IL17RD was added
gene: IL17RD was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: IL17RD was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 HFE Ivone Leong gene: HFE was added
gene: HFE was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 HAMP Ivone Leong gene: HAMP was added
gene: HAMP was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 GNRHR Ivone Leong gene: GNRHR was added
gene: GNRHR was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 GNRH1 Ivone Leong gene: GNRH1 was added
gene: GNRH1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 GLI2 Ivone Leong gene: GLI2 was added
gene: GLI2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS) v0.3 FSHB Ivone Leong gene: FSHB was added
gene: FSHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FGFR1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FGF8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 FEZF1 Ivone Leong gene: FEZF1 was added
gene: FEZF1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 DCAF17 Ivone Leong gene: DCAF17 was added
gene: DCAF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v0.3 CUL4B Ivone Leong gene: CUL4B was added
gene: CUL4B was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypogonadotropic hypogonadism (GMS) v0.3 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism (GMS) v0.3 ANOS1 Ivone Leong gene: ANOS1 was added
gene: ANOS1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: ANOS1 was set to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.148 RNU4ATAC Tracy Lester reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.148 RNU4ATAC Tracy Lester Deleted their review
Sarcoma cancer susceptibility v1.2 WT1 Ellen McDonagh reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilms tumour 1, 194070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 PAX7 Ellen McDonagh reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma 2, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma cancer susceptibility v1.2 PAX3 Ellen McDonagh reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma cancer susceptibility v1.2 KRAS Ellen McDonagh reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nevus, Epidermal 162900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 FOXO1 Ellen McDonagh reviewed gene: FOXO1: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma cancer susceptibility v1.2 DICER1 Ellen McDonagh reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pleuropulmonary blastoma, 601200, Rhabdomyosarcoma, embryonal, 2, 180295; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 CREBBP Ellen McDonagh reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHD Ellen McDonagh reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHC Ellen McDonagh reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHB Ellen McDonagh reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHA Ellen McDonagh reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 KIT Ellen McDonagh reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 RB1 Ellen McDonagh reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma, 180200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 PMS2 Ellen McDonagh reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 NF1 Ellen McDonagh reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, type 1 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 NBN Ellen McDonagh reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen breakage syndrome, 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 MSH6 Ellen McDonagh reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 MSH2 Ellen McDonagh reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 MLH1 Ellen McDonagh reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 HRAS Ellen McDonagh reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome, 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 CDKN1C Ellen McDonagh reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, 130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 BUB1B Ellen McDonagh reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 1, 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.1 WT1 Ellen McDonagh gene: WT1 was added
gene: WT1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to Wilms tumour 1, 194070
Sarcoma cancer susceptibility v1.1 PAX7 Ellen McDonagh gene: PAX7 was added
gene: PAX7 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PAX7 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX7 were set to 25768946
Phenotypes for gene: PAX7 were set to Rhabdomyosarcoma 2, alveolar, 268220
Sarcoma cancer susceptibility v1.1 PAX3 Ellen McDonagh gene: PAX3 was added
gene: PAX3 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PAX3 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX3 were set to 25768946
Phenotypes for gene: PAX3 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma cancer susceptibility v1.1 KRAS Ellen McDonagh gene: KRAS was added
gene: KRAS was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to Nevus, Epidermal 162900
Sarcoma cancer susceptibility v1.1 FOXO1 Ellen McDonagh gene: FOXO1 was added
gene: FOXO1 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: FOXO1 was set to Other - please specifiy in evaluation comments
Publications for gene: FOXO1 were set to 25768946
Phenotypes for gene: FOXO1 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma cancer susceptibility v1.1 DICER1 Ellen McDonagh gene: DICER1 was added
gene: DICER1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Sarcoma cancer susceptibility v1.1 CREBBP Ellen McDonagh gene: CREBBP was added
gene: CREBBP was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
Sarcoma cancer susceptibility v1.1 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 KIT Ellen McDonagh gene: KIT was added
gene: KIT was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene: KIT was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Sarcoma cancer susceptibility v1.1 RB1 Ellen McDonagh gene: RB1 was added
gene: RB1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RB1 were set to Retinoblastoma, 180200
Sarcoma cancer susceptibility v1.1 PMS2 Ellen McDonagh gene: PMS2 was added
gene: PMS2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 NF1 Ellen McDonagh gene: NF1 was added
gene: NF1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200
Sarcoma cancer susceptibility v1.1 NBN Ellen McDonagh gene: NBN was added
gene: NBN was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260
Sarcoma cancer susceptibility v1.1 MSH6 Ellen McDonagh gene: MSH6 was added
gene: MSH6 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 MSH2 Ellen McDonagh gene: MSH2 was added
gene: MSH2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 MLH1 Ellen McDonagh gene: MLH1 was added
gene: MLH1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to Costello syndrome, 218040
Sarcoma cancer susceptibility v1.1 CDKN1C Ellen McDonagh gene: CDKN1C was added
gene: CDKN1C was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650
Sarcoma cancer susceptibility v1.1 BUB1B Ellen McDonagh gene: BUB1B was added
gene: BUB1B was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300
Familial non syndromic congenital heart disease v1.41 TAB2 Ronnie Wright reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bleeding and platelet disorders v0.28 STX11 Steve Keeney edited their review of gene: STX11: Added comment: Insufficient evidence to include - primary association of variants in this gene relate to familial hemophagocytic lymphohistiocytosis. Reports of increased bleeding tendency are secondary to this.; Changed rating: RED
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ZNF469 Eleanor Williams Source NHS GMS was added to ZNF469.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TNXB Eleanor Williams Source NHS GMS was added to TNXB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFBR2 Eleanor Williams Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFBR1 Eleanor Williams Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFB3 Eleanor Williams Source NHS GMS was added to TGFB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFB2 Eleanor Williams Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD3 Eleanor Williams Source NHS GMS was added to SMAD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD2 Eleanor Williams Source NHS GMS was added to SMAD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SLC39A13 Eleanor Williams Source NHS GMS was added to SLC39A13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SKI Eleanor Williams Source NHS GMS was added to SKI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ROBO3 Eleanor Williams Source NHS GMS was added to ROBO3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 RIN2 Eleanor Williams Source NHS GMS was added to RIN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PYCR1 Eleanor Williams Source NHS GMS was added to PYCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PRDM5 Eleanor Williams Source NHS GMS was added to PRDM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PLOD1 Eleanor Williams Source NHS GMS was added to PLOD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 LTBP4 Eleanor Williams Source NHS GMS was added to LTBP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 LOX Eleanor Williams Source NHS GMS was added to LOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FKBP14 Eleanor Williams Source NHS GMS was added to FKBP14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBN2 Eleanor Williams Source NHS GMS was added to FBN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBN1 Eleanor Williams Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBLN5 Eleanor Williams Source NHS GMS was added to FBLN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ELN Eleanor Williams Source NHS GMS was added to ELN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 EFEMP2 Eleanor Williams Source NHS GMS was added to EFEMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 DSE Eleanor Williams Source NHS GMS was added to DSE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL6A3 Eleanor Williams Source NHS GMS was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL6A2 Eleanor Williams Source NHS GMS was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL6A1 Eleanor Williams Source NHS GMS was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL5A2 Eleanor Williams Source NHS GMS was added to COL5A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL5A1 Eleanor Williams Source NHS GMS was added to COL5A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL3A1 Eleanor Williams Source NHS GMS was added to COL3A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL12A1 Eleanor Williams Source NHS GMS was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 CHST14 Eleanor Williams Source NHS GMS was added to CHST14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 CBS Eleanor Williams Source NHS GMS was added to CBS.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 C1S Eleanor Williams Source NHS GMS was added to C1S.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 C1R Eleanor Williams Source NHS GMS was added to C1R.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 BGN Eleanor Williams Source NHS GMS was added to BGN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ATP7A Eleanor Williams Source NHS GMS was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ATP6V1A Eleanor Williams Source NHS GMS was added to ATP6V1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ATP6V0A2 Eleanor Williams Source NHS GMS was added to ATP6V0A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ALDH18A1 Eleanor Williams Source NHS GMS was added to ALDH18A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 AEBP1 Eleanor Williams Source NHS GMS was added to AEBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ADAMTS2 Eleanor Williams Source NHS GMS was added to ADAMTS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ABCC6 Eleanor Williams Source NHS GMS was added to ABCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 GGCX Eleanor Williams Source NHS GMS was added to GGCX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL2A1 Eleanor Williams Source NHS GMS was added to COL2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A3 Eleanor Williams Source NHS GMS was added to COL9A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A2 Eleanor Williams Source NHS GMS was added to COL9A2.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A1 Eleanor Williams Source NHS GMS was added to COL9A1.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 NOTCH1 Eleanor Williams Source NHS GMS was added to NOTCH1.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD4 Eleanor Williams Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 MYLK Eleanor Williams Source NHS GMS was added to MYLK.
Bleeding and platelet disorders v0.28 F2 Steve Keeney commented on gene: F2: Multiple reports on HGMD in association with prothrombin deficiency.
Osteogenesis imperfecta v1.17 WNT1 Eleanor Williams Source NHS GMS was added to WNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 TMEM38B Eleanor Williams Source NHS GMS was added to TMEM38B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 TAPT1 Eleanor Williams Source NHS GMS was added to TAPT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SPARC Eleanor Williams Source NHS GMS was added to SPARC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SP7 Eleanor Williams Source NHS GMS was added to SP7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SERPINH1 Eleanor Williams Source NHS GMS was added to SERPINH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SERPINF1 Eleanor Williams Source NHS GMS was added to SERPINF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SEC24D Eleanor Williams Source NHS GMS was added to SEC24D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 PPIB Eleanor Williams Source NHS GMS was added to PPIB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 PLS3 Eleanor Williams Source NHS GMS was added to PLS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 PLOD2 Eleanor Williams Source NHS GMS was added to PLOD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 P4HB Eleanor Williams Source NHS GMS was added to P4HB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 P3H1 Eleanor Williams Source NHS GMS was added to P3H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 NOTCH2 Eleanor Williams Source NHS GMS was added to NOTCH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 LRP5 Eleanor Williams Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 IFITM5 Eleanor Williams Source NHS GMS was added to IFITM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 FKBP10 Eleanor Williams Source NHS GMS was added to FKBP10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 FAM46A Eleanor Williams Source NHS GMS was added to FAM46A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 CRTAP Eleanor Williams Source NHS GMS was added to CRTAP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 BMP1 Eleanor Williams Source NHS GMS was added to BMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 ALPL Eleanor Williams Source NHS GMS was added to ALPL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Osteogenesis imperfecta v1.17 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Osteogenesis imperfecta v1.17 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Osteogenesis imperfecta v1.17 DSPP Eleanor Williams Source NHS GMS was added to DSPP.
Osteogenesis imperfecta v1.17 NBAS Eleanor Williams Source NHS GMS was added to NBAS.
Osteogenesis imperfecta v1.17 CASR Eleanor Williams Source NHS GMS was added to CASR.
Osteogenesis imperfecta v1.17 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Osteogenesis imperfecta v1.17 CREB3L1 Eleanor Williams Source NHS GMS was added to CREB3L1.
Osteogenesis imperfecta v1.17 TRPV6 Eleanor Williams Source NHS GMS was added to TRPV6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 NUDT6 Eleanor Williams Source NHS GMS was added to NUDT6.
Rating Changed from No List (delete) to Red List (low evidence)
Osteogenesis imperfecta v1.17 COPB2 Eleanor Williams Source NHS GMS was added to COPB2.
Rating Changed from No List (delete) to Red List (low evidence)
Bleeding and platelet disorders v0.28 RNU4ATAC Steve Keeney reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 210710, # 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.28 LYST Steve Keeney commented on gene: LYST: Classed as tier 1 by ISTH based on "gene-disease association had been reported in at least 3 independent pedigrees, or <3 pedigrees and supported by specific functional data and/or a mouse model, and following expert discussions during yearly SSC meeting".
Polycystic liver disease v0.4 DGUOK Ivone Leong Marked gene: DGUOK as ready
Polycystic liver disease v0.4 DGUOK Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with portal hypertension. Therefore, this gene has been given a red rating.
Polycystic liver disease v0.4 DGUOK Ivone Leong Gene: dguok has been classified as Red List (Low Evidence).
Polycystic liver disease v0.4 TMEM67 Ivone Leong Marked gene: TMEM67 as ready
Polycystic liver disease v0.4 TMEM67 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Polycystic liver disease v0.4 TMEM67 Ivone Leong Gene: tmem67 has been classified as Red List (Low Evidence).
Polycystic liver disease v0.4 RPGRIP1L Ivone Leong Marked gene: RPGRIP1L as ready
Polycystic liver disease v0.4 RPGRIP1L Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Polycystic liver disease v0.4 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Red List (Low Evidence).
Polycystic liver disease v0.4 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Polycystic liver disease v0.4 CC2D2A Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Polycystic liver disease v0.4 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Red List (Low Evidence).
Polycystic liver disease v0.4 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 19574260; 17558409
Phenotypes for gene: RPGRIP1L were set to COACH syndrome (216360); Joubert syndrome 7 (611560); Meckel syndrome 5 (611561)
Polycystic liver disease v0.4 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 30234759; 17073823; 26874653
Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068)
Polycystic liver disease v0.4 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 19574260; 18513680
Phenotypes for gene: CC2D2A were set to COACH syndrome (216360); congenital hepatic fibrosis; Joubert syndrome 9 (612285); Meckel syndrome 6 (612284)
Polycystic liver disease v0.4 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 16415887; 28680603; 19058225; 26191240
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); congenital hepatic fibrosis; COACH syndrome (216360)
Cerebellar hypoplasia v1.33 MACF1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Cerebellar hypoplasia v1.33 MACF1 Rebecca Foulger Mode of pathogenicity for gene: MACF1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Malformations of cortical development v1.167 MACF1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Malformations of cortical development v1.167 MACF1 Rebecca Foulger Mode of pathogenicity for gene: MACF1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v1.31 MACF1 Rebecca Foulger Phenotypes for gene: MACF1 were changed from Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia to Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia; Lissencephaly 9 with complex brainstem malformation, 618325
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Classified gene: MACF1 as Green List (high evidence)
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.31 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325
Added comment: Added MACF1 to 'Cerebellar hypoplasia' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers.
Sources: Literature
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Classified gene: MACF1 as Green List (high evidence)
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence).
Malformations of cortical development v1.165 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to Malformations of cortical development. Sources: Literature
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325
Review for gene: MACF1 was set to GREEN
Added comment: Added MACF1 to 'Malformations of cortical development' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers.
Sources: Literature
Adult onset neurodegenerative disorder v1.2 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP.
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 TERT Ivone Leong Marked gene: TERT as ready
Polycystic liver disease v0.3 TERT Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.3 TERC Ivone Leong Marked gene: TERC as ready
Polycystic liver disease v0.3 TERC Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 TERC Ivone Leong Gene: terc has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.3 STN1 Ivone Leong Marked gene: STN1 as ready
Polycystic liver disease v0.3 STN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 STN1 Ivone Leong Gene: stn1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.3 SEC61B Ivone Leong Marked gene: SEC61B as ready
Polycystic liver disease v0.3 SEC61B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 SEC61B Ivone Leong Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.3 RTEL1 Ivone Leong Marked gene: RTEL1 as ready
Polycystic liver disease v0.3 RTEL1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 RTEL1 Ivone Leong Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.3 B9D1 Ivone Leong Marked gene: B9D1 as ready
Polycystic liver disease v0.3 B9D1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 B9D1 Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.3 SEC63 Ivone Leong Marked gene: SEC63 as ready
Polycystic liver disease v0.3 SEC63 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 SEC63 Ivone Leong Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 PRKCSH Ivone Leong Marked gene: PRKCSH as ready
Polycystic liver disease v0.3 PRKCSH Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 PRKCSH Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 PKHD1 Ivone Leong Marked gene: PKHD1 as ready
Polycystic liver disease v0.3 PKHD1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 PKHD1 Ivone Leong Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 PKD2 Ivone Leong Marked gene: PKD2 as ready
Polycystic liver disease v0.3 PKD2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 PKD2 Ivone Leong Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 PKD1 Ivone Leong Marked gene: PKD1 as ready
Polycystic liver disease v0.3 PKD1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 PKD1 Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 LRP5 Ivone Leong Marked gene: LRP5 as ready
Polycystic liver disease v0.3 LRP5 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 LRP5 Ivone Leong Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 GANAB Ivone Leong Marked gene: GANAB as ready
Polycystic liver disease v0.3 GANAB Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 GANAB Ivone Leong Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 DNAJB11 Ivone Leong Marked gene: DNAJB11 as ready
Polycystic liver disease v0.3 DNAJB11 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 DNAJB11 Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 ALG8 Ivone Leong Marked gene: ALG8 as ready
Polycystic liver disease v0.3 ALG8 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease v0.3 ALG8 Ivone Leong Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.2 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TERT were set to 21436073; 19936245; 21483807
Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989)
Polycystic liver disease v0.2 TERC Ivone Leong gene: TERC was added
gene: TERC was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TERC were set to 21436073; 19936245; 22341970
Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)
Polycystic liver disease v0.2 STN1 Ivone Leong gene: STN1 was added
gene: STN1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
Polycystic liver disease v0.2 SEC61B Ivone Leong gene: SEC61B was added
gene: SEC61B was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61B were set to 28862642
Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts
Polycystic liver disease v0.2 RTEL1 Ivone Leong gene: RTEL1 was added
gene: RTEL1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 28495916
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)
Polycystic liver disease v0.2 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21763481; 21493627
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)
Polycystic liver disease v0.2 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Polycystic liver disease v0.2 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Polycystic liver disease v0.2 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Polycystic liver disease v0.2 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Polycystic liver disease v0.2 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 29321346
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Polycystic liver disease v0.2 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD1 were set to 8554072; 3178424; 9211343
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Polycystic liver disease v0.2 LRP5 Ivone Leong gene: LRP5 was added
gene: LRP5 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRP5 were set to 25920554
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Polycystic liver disease v0.2 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GANAB were set to 29243290; 27259053; 28862642
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Polycystic liver disease v0.2 ALG8 Ivone Leong gene: ALG8 was added
gene: ALG8 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALG8 were set to 28375157; 15235028
Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)
Hereditary spastic paraplegia v1.196 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive, 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Ductal plate malformation v1.9 TERT Ivone Leong Source NHS GMS was added to TERT.
Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT
Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807
Ductal plate malformation v1.9 TERC Ivone Leong Source NHS GMS was added to TERC.
Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC
Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970
Ductal plate malformation v1.9 STN1 Ivone Leong Source NHS GMS was added to STN1.
Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1
Ductal plate malformation v1.9 SEC61B Ivone Leong Added phenotypes Association with polycystic liver disease 1 with or without renal cysts for gene: SEC61B
Ductal plate malformation v1.9 RTEL1 Ivone Leong Source NHS GMS was added to RTEL1.
Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1
Ductal plate malformation v1.9 B9D1 Ivone Leong Source NHS GMS was added to B9D1.
Added phenotypes ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) for gene: B9D1
Publications for gene B9D1 were changed from 21493627; 21763481 to 21763481; 21493627
Ductal plate malformation v1.9 SEC63 Ivone Leong Added phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) for gene: SEC63
Ductal plate malformation v1.9 PRKCSH Ivone Leong Added phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) for gene: PRKCSH
Publications for gene PRKCSH were changed from 12529853; 12577059; 11047756; 29038287 to 11047756; 29038287; 12529853; 12577059
Ductal plate malformation v1.9 PKHD1 Ivone Leong Added phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) for gene: PKHD1
Publications for gene PKHD1 were changed from 28862642; 11337358; 11135065; 11919560; 30211211 to 11135065; 30211211; 11919560; 28862642; 11337358
Ductal plate malformation v1.9 PKD2 Ivone Leong Added phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) for gene: PKD2
Ductal plate malformation v1.9 PKD1 Ivone Leong Added phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) for gene: PKD1
Publications for gene PKD1 were changed from 3178424; 9211343; 8554072 to 8554072; 3178424; 9211343
Ductal plate malformation v1.9 LRP5 Ivone Leong Added phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) for gene: LRP5
Ductal plate malformation v1.9 GANAB Ivone Leong Added phenotypes Polycystic kidney disease 3 (600666) for gene: GANAB
Publications for gene GANAB were changed from 28862642; 27259053; 29243290 to 29243290; 27259053; 28862642
Ductal plate malformation v1.9 ALG8 Ivone Leong Added phenotypes Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) for gene: ALG8
Publications for gene ALG8 were changed from 15235028; 28375157 to 28375157; 15235028
Hereditary spastic paraplegia v1.195 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia v1.194 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive 613162
Childhood onset hereditary spastic paraplegia v1.1 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on curation by Sarah Leigh and feedback from Helen Brittain who notes that there are sufficient cases with a phenotype that includes spasticity to meet the threshold for inclusion; therefore a green rating seems appropriate.
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Fetal anomalies v0.127 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.127 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.126 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
Fetal anomalies v0.126 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Ductal plate malformation v1.8 DNAJB11 Ivone Leong Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Polycystic liver disease v0.1 Ivone Leong Panel status changed from internal to public
DDG2P v1.7 FARS2 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to 'biallelic' to match OMIM and other PanelApp panels (no MOI listed in DD-G2P at the time of curation).
DDG2P v1.7 FARS2 Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.6 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.6 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.5 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
DDG2P v1.5 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Ductal plate malformation v1.7 Ivone Leong Panel name changed from Polycystic liver disease to Ductal plate malformation
List of related panels changed from Ductal plate malformation (DPM) to Ductal plate malformation (DPM); Polycystic liver disease
Panel types changed to Rare Disease 100K
Polycystic liver disease v0.0 Ivone Leong Added Panel Polycystic liver disease interim
Set panel types to: GMS Rare Disease
DDG2P v1.4 EHMT1 Rebecca Foulger Publications for gene: EHMT1 were set to 19264732; 16826528
DDG2P v1.3 EHMT1 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotypes frp, '9Q SUBTELOMERIC DELETION SYNDROME 610253' to 'Kleefstra syndrome' to reflect DD-G2P update.
DDG2P v1.3 EHMT1 Rebecca Foulger Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME 610253 to Kleefstra syndrome
DDG2P v1.2 STAG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to X-linked to reflect change in DD-G2P, and to match other PanelApp panels.
DDG2P v1.2 STAG2 Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.125 GBA Rebecca Foulger Classified gene: GBA as Green List (high evidence)
Fetal anomalies v0.125 GBA Rebecca Foulger Gene: gba has been classified as Green List (High Evidence).
Fetal anomalies v0.124 TALDO1 Rebecca Foulger reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 SOS2 Rebecca Foulger reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 LZTR1 Rebecca Foulger reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 LIPA Rebecca Foulger reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 HBA2 Rebecca Foulger reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 HBA1 Rebecca Foulger reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 SGPL1 Rebecca Foulger reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 GBA Rebecca Foulger edited their review of gene: GBA: Added comment: GBA was on the Fetal anomalies panel as an Amber gene based on the DD-Gene2Phenotype rating of 'both DD and IF' for Gaucher diseases. Changed rating from Amber to Green based on Green rating on 'Fetal hydrops' panel (V.16). Lyn Chitty (Great Ormond Street) confirmed that this gene should be included on the Fetal anomalies panel.; Changed rating: GREEN
Fetal anomalies v0.123 TALDO1 Rebecca Foulger gene: TALDO1 was added
gene: TALDO1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Fetal hydrops; Transaldolase deficiency, 606003
Fetal anomalies v0.123 SOS2 Rebecca Foulger gene: SOS2 was added
gene: SOS2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS2 were set to Fetal hydrops; Noonan syndrome 9, 616559
Fetal anomalies v0.123 LZTR1 Rebecca Foulger gene: LZTR1 was added
gene: LZTR1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Fetal hydrops; Noonan syndrome 10, 616564
Fetal anomalies v0.123 LIPA Rebecca Foulger gene: LIPA was added
gene: LIPA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 12666227
Phenotypes for gene: LIPA were set to Fetal hydrops; Wolman disease, 278000; Lysosomal Acid Lipase Deficiency
Fetal anomalies v0.123 HBA2 Rebecca Foulger gene: HBA2 was added
gene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Fetal hydrops; Thalassemia, alpha-, 604131
Fetal anomalies v0.123 HBA1 Rebecca Foulger gene: HBA1 was added
gene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Fetal hydrops; Thalassemia, alpha-, 604131
Fetal anomalies v0.123 SGPL1 Rebecca Foulger gene: SGPL1 was added
gene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Fetal hydrops; Nephrotic syndrome type 14, 617575
Endocrine neoplasia v0.4 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Endocrine neoplasia v0.4 CDKN1B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasia v0.4 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Endocrine neoplasia v0.4 MEN1 Ivone Leong Marked gene: MEN1 as ready
Endocrine neoplasia v0.4 MEN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasia v0.4 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Endocrine neoplasia v0.4 RET Ivone Leong Marked gene: RET as ready
Endocrine neoplasia v0.4 RET Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasia v0.4 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Endocrine neoplasia v0.4 CDC73 Ivone Leong Marked gene: CDC73 as ready
Endocrine neoplasia v0.4 CDC73 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasia v0.4 CDC73 Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence).
Endocrine neoplasia v0.4 AIP Ivone Leong Marked gene: AIP as ready
Endocrine neoplasia v0.4 AIP Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasia v0.4 AIP Ivone Leong Gene: aip has been classified as Green List (High Evidence).
Endocrine neoplasia v0.3 RET Ivone Leong gene: RET was added
gene: RET was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to MEN2-like spectrum; Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication; Multiple endocrine neoplasia IIA, 171400; Endocrine Cancer; Multiple Endocrine Neoplasia
Endocrine neoplasia v0.3 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Endocrine Cancer; pituitary tumours; Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication; Parathyroid adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Carcinoid tumor of lung; Angiofibroma, somatic; Adrenal adenoma, somatic; Lipoma, somatic; MEN1-like spectrum; Multiple Endocrine Neoplasia
Endocrine neoplasia v0.3 CDKN1B Ivone Leong gene: CDKN1B was added
gene: CDKN1B was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1B were set to Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755
Endocrine neoplasia v0.3 CDC73 Ivone Leong gene: CDC73 was added
gene: CDC73 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDC73 were set to Endocrine Cancer
Endocrine neoplasia v0.3 AIP Ivone Leong gene: AIP was added
gene: AIP was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Endocrine Cancer; Pituitary adenoma, growth hormone-secreting, 102200; pituitary tumours; Familial Isolated Pituitary Adenomas; Pituitary adenoma, prolactin-secreting, 600634; Pituitary adenoma, ACTH-secreting, 219090
Inherited phaeochromocytoma and paraganglioma v1.5 PRKAR1A Ivone Leong reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong Marked gene: PRKAR1A as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong Gene: prkar1a has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Marked gene: MEN1 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Marked gene: RET as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Marked gene: SDHA as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Gene: sdha has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Marked gene: SDHAF2 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Gene: sdhaf2 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Marked gene: SDHB as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Gene: sdhb has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Marked gene: SDHC as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Gene: sdhc has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Marked gene: SDHD as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Gene: sdhd has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Marked gene: TMEM127 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Gene: tmem127 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Marked gene: VHL as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Gene: vhl has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Marked gene: MAX as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Gene: max has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Marked gene: FH as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Gene: fh has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.25 SEC23B Carl Fratter reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 VHL Ivone Leong gene: VHL was added
gene: VHL was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 TMEM127 Ivone Leong gene: TMEM127 was added
gene: TMEM127 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to}, 171300
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, 601650; Hereditary Paraganglioma-Pheochromocytoma Syndrome
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 RET Ivone Leong gene: RET was added
gene: RET was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Multiple Endocrine Neoplasia
Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Endocrine Cancer; Carney complex
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia type 1 (MEN1); Multiple Endocrine Neoplasia
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 MAX Ivone Leong gene: MAX was added
gene: MAX was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to PubMed: 21685915; 22429592
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 FH Ivone Leong gene: FH was added
gene: FH was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FH were set to 23707781; 24334767
Phenotypes for gene: FH were set to PCC/PGL; HLRCC
Iron metabolism disorders - NOT common HFE mutations v0.25 CDAN1 Carl Fratter reviewed gene: CDAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.30 ATN1 Konstantinos Varvagiannis gene: ATN1 was added
gene: ATN1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Feeding difficulties; Abnormality of the cardiovascular system; Cleft palate; Abnormality of the kidney
Penetrance for gene: ATN1 were set to unknown
Mode of pathogenicity for gene: ATN1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATN1 was set to GREEN
Added comment: Apart from CAG repeat expansions (green in the present panel) seizures have been reported in individuals with mutations in the HX repeat motif (5 unrelated individuals, each with a private variant).

As a result, ATN1 can be considered for inclusion in the Epilepsy panel as green (or amber).

Copied from the ID panel :

Palmer et al. (2019 - PMID: 30827498) report on 8 individuals all harboring de novo missense or insertion variants within a 16-amino-acid HX repeat motif (aa 1150-1065 / 8 HX repeats, where H is histidine and X any amino acid) in exon 7 of ATN1. The specific motif is distal to the Gln-rich region involved in Dentatorubro-pallidoluysian atrophy (caused by polyglutamine expansion in exon 5, due to a probable toxic GoF effect - MIM #125370). None of the subjects reported presented features of the latter disorder.

Common features included hypotonia (8/8) , DD and/or ID (8/8). Other frequent features included visual or hearing impairment, seizures (5/8 - in most presenting as neonatal/infantile onset dev. encephalopathy), feeding difficulties/functional GI disorders. Some individuals presented with congenital anomalies eg. cardiac, cleft palate, renal anomalies, anteriorly placed anus. Some facial (eg. presence of tall forehead, bitemporal narrowing, deep set eyes, sparse lateral hair, bulbous nose, open mouth appearance ,etc) or features of the extremities (overlapping fingers/toes) were also common.

Converging evidence from the literature suggests that ATN1 is a nuclear transcriptional regulator important in the control of brain and other organ development (PMIDs cited: 17150957, 25519973, 10973986). The gene is widely expressed in various tissues incl. brain, heart, lung, kidney, skeletal muscle. Expression is higher in fetal tissues particularly in brain while the gene is broadly expressed in multiple regions of the adult human brain (PMID: 7485154).

All 8 variants were missense SNVs or insertions within the HX repeat motif (aa 1150-1065) and had occurred as de novo events: c.3160C>A or p.His1054Asn, c.3172C>T or p.His1058Tyr, c.3177_3178insAACCTG or p.Ser1059_His1060insAsnLeu, c.3177_3178insGACCTG or p.Ser1059_His1060insAspLeu, c.3178C>T or p.His1060Tyr, c.3184C>G or p.His1062Asp, c.3188T>G or p.Leu1063Arg, c.3185A>G or p.His1062Arg [NM_001007026.1].

NMR studies of 2 commercialy synthesized polypeptides containing residues 1046-1067 of ATN1 and the HX motif suggested disruption in the case of His1060Tyr of the spatial and dynamical synchronization of histidines which is favored by the regularly spaced occurrence of histidines in the wild-type sequence. Under specific conditions introduction of His1060Tyr allowed zinc binding, which was not the case for the wild-type peptide, thus conferring the peptide a novel property (the consequences of which are though unknown). Clustering of the variants and presence of LoF in healthy individuals (eg. in gnomAD db) suggests that haploinsufficiency is unlikely.

Similar (HX)n repeat motifs exist in other proteins, among others RERE or AUTS2 which are associated with neurodevelopmental disorders. The authors comment that disruption of the HX motif in RERE has been reported in affected individuals and that mutations occurring in this motif are more likely to be associated with congenital anomalies, compared to mutations in the rest of the protein.

As for animal models, Atn1 -/- mice are neurologically normal. Knockdown of the gene in rat neuronal progenitor cells led to anomalies in brain development, though these could be rescued by co-transfection with human ATN1 construct (PMIDs cited: 17150957, 25519973).
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In OMIM, heterozygous pathogenic CAG trinucleotide expansions in ATN1 are associated with DRPLA (MIM #125370). The gene is not associated with any phenotype in G2P.
Sources: Literature
Intellectual disability v2.784 ATN1 Konstantinos Varvagiannis reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30827498; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Feeding difficulties, Abnormality of the cardiovascular system, Cleft palate, Abnormality of the kidney; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.49 ALMS1 Ellen McDonagh Classified gene: ALMS1 as Red List (low evidence)
Dilated Cardiomyopathy and conduction defects v1.49 ALMS1 Ellen McDonagh Added comment: Comment on list classification: Added to the panel by expert reviewer.
Dilated Cardiomyopathy and conduction defects v1.49 ALMS1 Ellen McDonagh Gene: alms1 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy and conduction defects v1.48 ALMS1 Ellen McDonagh Publications for gene: ALMS1 were set to PMID: 2030; 1444
Dilated and arrhythmogenic cardiomyopathy v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease
Dilated and arrhythmogenic cardiomyopathy v0.0 VCL Ellen McDonagh gene: VCL was added
gene: VCL was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCL were set to 20186049; 27532257
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated, 1W; Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255)
Dilated and arrhythmogenic cardiomyopathy v0.0 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TTN were set to 20186049; 27532257
Phenotypes for gene: TTN were set to Myopathy, proximal, with early respiratory muscle involvement (603689); Cardiomyopathy, familial hypertrophic, 9 (613765); Tibial muscular dystrophy, tardive (600334); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, dilated, 1G (604145); Salih myopathy (611705); Cardiomyopathy, dilated, 1G
Dilated and arrhythmogenic cardiomyopathy v0.0 TPM1 Ellen McDonagh gene: TPM1 was added
gene: TPM1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 20186049; 27532257
Phenotypes for gene: TPM1 were set to Cardiomyopathy, dilated, 1Y; Cardiomyopathy, dilated, 1Y (611878); Cardiomyopathy, hypertrophic, 3 (115196); Left ventricular noncompaction 9 ( 611878)
Dilated and arrhythmogenic cardiomyopathy v0.0 TNNT2 Ellen McDonagh gene: TNNT2 was added
gene: TNNT2 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNT2 were set to 20186049; 27532257
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Cardiomyopathy, dilated, 1D (601494); Left ventricular noncompaction 6 (601494)
Dilated and arrhythmogenic cardiomyopathy v0.0 TNNI3 Ellen McDonagh gene: TNNI3 was added
gene: TNNI3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNI3 were set to 20186049; 27532257
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, dilated, 2A,; ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, dilated, 1FF; Cardiomyopathy, hypertrophic, 7 (613690)
Dilated and arrhythmogenic cardiomyopathy v0.0 TNNC1 Ellen McDonagh gene: TNNC1 was added
gene: TNNC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNC1 were set to 20186049; 27532257
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, hypertrophic, 13 (613243); Cardiomyopathy, dilated, 1Z; Cardiomyopathy, dilated, 1Z (611879)
Dilated and arrhythmogenic cardiomyopathy v0.0 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TCAP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 15582318; 20186049; 27532257
Phenotypes for gene: TCAP were set to Cardiomyopathy, hypertrophic, 25 (607487); Cardiomyopathy, dilated, 1N; Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Dilated and arrhythmogenic cardiomyopathy v0.0 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: SGCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SGCD were set to 19259135; 20186049; 27532257
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L; Cardiomyopathy, dilated, 1L (606685)
Dilated and arrhythmogenic cardiomyopathy v0.0 SCN5A Ellen McDonagh gene: SCN5A was added
gene: SCN5A was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH
Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN5A were set to 20186049; 27532257
Phenotypes for gene: SCN5A were set to Cardiomyopathy, dilated, 1E
Dilated and arrhythmogenic cardiomyopathy v0.0 RBM20 Ellen McDonagh gene: RBM20 was added
gene: RBM20 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBM20 were set to 20186049; 27532257
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD; Cardiomyopathy, dilated, 1DD (613172)
Dilated and arrhythmogenic cardiomyopathy v0.0 PLN Ellen McDonagh gene: PLN was added
gene: PLN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLN were set to 20186049; 27532257
Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18 (613874)
Dilated and arrhythmogenic cardiomyopathy v0.0 NEXN Ellen McDonagh gene: NEXN was added
gene: NEXN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEXN were set to 19881492; 27532257
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC
Dilated and arrhythmogenic cardiomyopathy v0.0 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH7 were set to 20186049; 27532257
Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, dilated, 1S; Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430); Myopathy, myosin storage, autosomal dominant (608358); Cardiomyopathy, hypertrophic, 1 (192600); Left ventricular noncompaction 5 (613426); Laing distal myopathy (160500)
Dilated and arrhythmogenic cardiomyopathy v0.0 MYH6 Ellen McDonagh gene: MYH6 was added
gene: MYH6 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH6 were set to 15998695; 27532257
Phenotypes for gene: MYH6 were set to Cardiomyopathy, hypertrophic, 14 (613251); Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Atrial septal defect 3 (614089); Cardiomyopathy, dilated, 1EE
Dilated and arrhythmogenic cardiomyopathy v0.0 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYBPC3 were set to 20186049; 27532257
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396)
Dilated and arrhythmogenic cardiomyopathy v0.0 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 20186049; 27532257
Phenotypes for gene: LMNA were set to Muscular dystrophy, congenital (613205); Malouf syndrome (212112); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Heart-hand syndrome, Slovenian type (610140); Hutchinson-Gilford progeria (176670); Cardiomyopathy, dilated, 1A (115200); Restrictive dermopathy, lethal (275210); Lipodystrophy, familial partial, type 2 (151660); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Charcot-Marie-Tooth disease, type 2B1 (605588); Mandibuloacral dysplasia (248370); Cardiomyopathy, dilated, 1A
Dilated and arrhythmogenic cardiomyopathy v0.0 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Cardiomyopathy, dilated, 1X
Dilated and arrhythmogenic cardiomyopathy v0.0 EYA4 Ellen McDonagh gene: EYA4 was added
gene: EYA4 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EYA4 were set to 27532257; 15735644
Phenotypes for gene: EYA4 were set to ?Cardiomyopathy, dilated, 1J (605362); Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 (601316)
Dilated and arrhythmogenic cardiomyopathy v0.0 DES Ellen McDonagh gene: DES was added
gene: DES was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DES were set to 20186049; 27532257
Phenotypes for gene: DES were set to Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I, (604765); Cardiomyopathy, dilated, 1I,
Dilated and arrhythmogenic cardiomyopathy v0.0 CSRP3 Ellen McDonagh gene: CSRP3 was added
gene: CSRP3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSRP3 were set to 18505755; 27532257
Phenotypes for gene: CSRP3 were set to ?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 (612124)
Dilated and arrhythmogenic cardiomyopathy v0.0 ACTN2 Ellen McDonagh gene: ACTN2 was added
gene: ACTN2 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,UKGTN
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN2 were set to 25224718; 27532257; 26312134
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Dilated Cardiomyopathy, Dominant
Dilated and arrhythmogenic cardiomyopathy v0.0 ACTC1 Ellen McDonagh gene: ACTC1 was added
gene: ACTC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26061005; 27532257
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, dilated, 1R; Atrial septal defect 5 (612794)
Dilated and arrhythmogenic cardiomyopathy v0.0 ABCC9 Ellen McDonagh gene: ABCC9 was added
gene: ABCC9 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC9 were set to 15034580; 27532257
Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O (608569); Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O; Atrial fibrillation, familial, 12 (614050)
Dilated and arrhythmogenic cardiomyopathy v0.0 Ellen McDonagh Added panel Dilated cardiomyopathy - adult and teen
Cerebellar hypoplasia v1.30 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307; 25529582
Cerebellar hypoplasia v1.29 ATAD3A Louise Daugherty Classified gene: ATAD3A as Amber List (moderate evidence)
Cerebellar hypoplasia v1.29 ATAD3A Louise Daugherty Gene: atad3a has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Classified gene: ATAD3A as Green List (high evidence)
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Added comment: Comment on list classification: Based on current information in the literature in view of the number of cases with Cerebellar hypoplasia verses the there is not enough evidence to support gene-disease association rating of this gene to Green. Added watchlist tag.
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Gene: atad3a has been classified as Green List (High Evidence).
Intellectual disability v2.784 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307
Cerebellar hypoplasia v1.27 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307
Cerebellar hypoplasia v1.26 ATAD3A Louise Daugherty Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, 617183
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 MTM1 Louise Daugherty Classified gene: MTM1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 MTM1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 MTM1 Louise Daugherty Gene: mtm1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 MTM1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 MTM1 Louise Daugherty Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400
Cytopenia - NOT Fanconi anaemia v0.31 PARN Mandy nesbitt edited their review of gene: PARN: Changed rating: GREEN; Changed phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6
Confirmed Fanconi anaemia or Bloom syndrome v0.20 XRCC2 Mandy nesbitt edited their review of gene: XRCC2: Changed rating: RED
Fetal anomalies v0.122 STAT1 Ellen McDonagh Marked gene: STAT1 as ready
Fetal anomalies v0.122 STAT1 Ellen McDonagh Gene: stat1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.122 STAT1 Ellen McDonagh Classified gene: STAT1 as Red List (low evidence)
Fetal anomalies v0.122 STAT1 Ellen McDonagh Added comment: Comment on list classification: This gene and phenotype were discussed in a meeting with Lyn Chitty, Anna de Burca, Richard Scott, Ellen McDonagh and Rebecca Foulger (Great Ormond Street, March 11th 2019). This gene-phenotype is not fetally-relevant. Agreed that this gene should be demoted to Red.
Fetal anomalies v0.122 STAT1 Ellen McDonagh Gene: stat1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection v1.87 FLCN Ataf Sabir reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24917291; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 RTEL1 Paula Page gene: RTEL1 was added
gene: RTEL1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to PMID: 30466750; PMID: 29146883
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373
Penetrance for gene: RTEL1 were set to unknown
Review for gene: RTEL1 was set to GREEN
Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. Telomere biology associated gene. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with telomere biology disorders and it is not listed as a TBD in AML ELN Recommendations. In the Telomerase database and associated with MDS, DC and IPF. Recommend Tom Vulliamy's opinion.
Sources: Literature, Research
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 SAMD9 Paula Page gene: SAMD9 was added
gene: SAMD9 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome 617053
Penetrance for gene: SAMD9 were set to unknown
Mode of pathogenicity for gene: SAMD9 was set to Other
Review for gene: SAMD9 was set to GREEN
Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. It is associated with bone marrow failure syndromes. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with BMFS. Recommend Tom Vulliamy's opinion.
Sources: Literature, Research
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ACD Paula Page gene: ACD was added
gene: ACD was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Research
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACD were set to 25233904
Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7
Penetrance for gene: ACD were set to unknown
Review for gene: ACD was set to AMBER
gene: ACD was marked as current diagnostic
Added comment: On the current WWMGLH Familial MDS/AML panel. Associated with telomere biology disorders. In the telomerase specific database no association with AML (although aplastic anaemia is present). Not specifically in the WHO/ELN or Godley guidelines unless it is counted as a telomere biology gene. Would recommend advice from Tom Vulliamy.
Sources: Research
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TERT Paula Page reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: Dyskeratosis congenita, autosomal dominant 2 613989, Dyskeratosis congenita, autosomal recessive 4 613989, Leukemia, acute myeloid} 601626, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TERC Paula Page reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1, Aplastic anemia 614743, Pulmonary fibrosis, idiopathic, susceptibility to 614743; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 SRP72 Paula Page reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 29146883, PMID: 26917736; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: None; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 RUNX1 Paula Page reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy, 601626 Leukemia, acute myeloid; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 GATA2 Paula Page reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 614286 {Myelodysplastic syndrome, susceptibility to}, 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ETV6 Paula Page reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 600618 Thrombocytopenia 5, 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.121 MYT1 Rebecca Foulger Phenotypes for gene: MYT1 were changed from Oculo-auriculo-vertebral spectrum (OAVS) to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 DDX41 Paula Page reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.120 MYT1 Rebecca Foulger commented on gene: MYT1: MYT1 was added to the panel as Amber based on a 'Probable' rating in the Additional Gene list supplied by the PAGE group. Note that 'OAVS/Goldenhar syndrome' currently has a 'possible' rating in DD-G2P.
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CHEK2 Paula Page reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.148 ISCA-37441-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37441-Loss.
Skeletal dysplasia v1.148 ISCA-37434-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37434-Loss.
Skeletal dysplasia v1.148 ISCA-37418-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37418-Loss.
Skeletal dysplasia v1.148 ISCA-37406-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37406-Loss.
Skeletal dysplasia v1.148 ISCA-37394-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37394-Loss.
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CEBPA Paula Page reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 116897, 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ANKRD26 Paula Page reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 610855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.48 ISCA-37441-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37441-Loss.
Cytopenias and congenital anaemias v1.67 ADA2 Louise Daugherty edited their review of gene: ADA2: Changed rating: GREEN
Cytopenias and congenital anaemias v1.67 ADA2 Louise Daugherty Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Cytopenias and congenital anaemias v1.66 ADA2 Louise Daugherty Classified gene: ADA2 as Green List (high evidence)
Cytopenias and congenital anaemias v1.66 ADA2 Louise Daugherty Added comment: Comment on list classification: Due to new publication there is now enough evidence o rate this gene green
Cytopenias and congenital anaemias v1.66 ADA2 Louise Daugherty Gene: ada2 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.13 PAX6 Jay Self reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v0.13 CACNA1A Jay Self reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v1.147 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss
Skeletal dysplasia v1.147 ISCA-37434-Loss Eleanor Williams commented on Region: ISCA-37434-Loss
Skeletal dysplasia v1.147 ISCA-37418-Loss Eleanor Williams commented on Region: ISCA-37418-Loss
Skeletal dysplasia v1.147 ISCA-37406-Loss Eleanor Williams commented on Region: ISCA-37406-Loss
Skeletal dysplasia v1.147 ISCA-37394-Loss Eleanor Williams commented on Region: ISCA-37394-Loss
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: 11p11.2del (ISCA-37441-Loss); Suggested initial gene rating: green
Tubulointerstitial kidney disease v0.8 MT-TF Daniel Gale gene: MT-TF was added
gene: MT-TF was added to Tubulointerstitial kidney disease. Sources: Literature
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609
Phenotypes for gene: MT-TF were set to Tubulointerstitial kidney disease; tubulointerstitial nephritis; renal insufficiency; renal failure
Penetrance for gene: MT-TF were set to Complete
Review for gene: MT-TF was set to GREEN
gene: MT-TF was marked as current diagnostic
Added comment: Sources: Literature
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 ISCA-37441-Loss Eleanor Williams reviewed Region: ISCA-37441-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 15852040, 16319823, 20140962; Phenotypes: Potocki-Shaffer syndrome, multiple exostoses, biparietal foramina, intellectual disability, strabismus, minor craniofacial anomalies, myopia, ophthalmologic anomalies, 601224, mental retardation, enlarged anterior fontanel, genital abnormalities in males, parietal foramina, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 ZMPSTE24 Tracy Lester reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy 608612, Restrictive dermopathy, lethal 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ZIC1 Tracy Lester reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26340333; Phenotypes: Craniosynostosis 6 616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal dysplasia v1.147 YY1 Tracy Lester reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 XYLT2 Tracy Lester reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26987875; Phenotypes: Spondyloocular syndrome 605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 XYLT1 Tracy Lester reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Desbuquois dysplasia 2 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 XRCC4 Tracy Lester reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, microcephaly, and endocrine dysfunction 616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT7A Tracy Lester reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fuhrmann syndrome 228930, Ulna and fibula, absence of, with severe limb deficiency 276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT5A Tracy Lester reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 WNT3 Tracy Lester reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT10B Tracy Lester reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24211389; Phenotypes: Split-hand/foot malformation 6 225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT1 Tracy Lester reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI/osteoporosis, Osteogenesis imperfecta, type XV, 615220, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221, osteogenesis imperfecta; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WISP3 Tracy Lester reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood 208230, Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR60 Tracy Lester reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly 615503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR35 Tracy Lester reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioectodermal dysplasia 2 613610, Short-rib thoracic dysplasia 7 with or without polydactyly 614091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR34 Tracy Lester reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, 615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR19 Tracy Lester reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: 24504730, 22019273; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Cranioectodermal dysplasia 4, 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 UFSP2 Tracy Lester reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28892125, 26428751; Phenotypes: Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TYROBP Tracy Lester reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nasu-Hakola disease 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TWIST2 Tracy Lester reviewed gene: TWIST2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ablepharon-macrostomia syndrome 200110, Barber-Say syndrome 209885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TWIST1 Tracy Lester reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniosynostosis, type 1 123100, Robinow-Sorauf syndrome 180750, Saethre-Chotzen syndrome 101400, Saethre-Chotzen syndrome with eyelid anomalies 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 TTC21B Tracy Lester reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRTD4, Asphyxiating Thoracic Dystrophy, Nephronophthisis 12, 613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TRPV4 Tracy Lester reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachyolmia type 3 113500, Digital arthropathy-brachydactyly, familial 606835, Hereditary motor and sensory neuropathy, type IIc 606071, Metatropic dysplasia 156530, Parastremmatic dwarfism 168400, Scapuloperoneal spinal muscular atrophy 181405, SED, Maroteaux type 184095, Spinal muscular atrophy, distal, congenital nonprogressive 600175, Spondylometaphyseal dysplasia, Kozlowski type 184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TRPS1 Tracy Lester reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Trichorhinophalangeal syndrome, type I 190350, Trichorhinophalangeal syndrome, type III 190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TRIP11 Tracy Lester reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achondrogenesis, type IA 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TREM2 Tracy Lester reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nasu-Hakola disease 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TRAPPC2 Tracy Lester reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 TP63 Tracy Lester reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ULT syndrome 103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292, Hay-Wells syndrome 106260, Limb-mammary syndrome 603543, Orofacial cleft 8 129400, Rapp-Hodgkin syndrome 129400, Split-hand/foot malformation 4 605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TNFSF11 Tracy Lester reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TNFRSF11B Tracy Lester reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paget disease of bone 5, juvenile-onset 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TNFRSF11A Tracy Lester reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteolysis, familial expansile 174810, Osteopetrosis, autosomal recessive 7 612301, Paget disease of bone 2, early-onset 602080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TMEM67 Tracy Lester reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: COACH syndrome 216360, Joubert syndrome 6 610688, Meckel syndrome 3 607361, {Bardet-Biedl syndrome 14, modifier of} 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM38B Tracy Lester reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type XIV 615066, Osteogenesis imperfecta, type XIV, 615066, osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM231 Tracy Lester reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 20 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM216 Tracy Lester reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 2 608091, Meckel syndrome 2 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM165 Tracy Lester reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIk 614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMCO1 Tracy Lester reviewed gene: TMCO1: Rating: RED; Mode of pathogenicity: ; Publications: 24424126; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 THPO Tracy Lester reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22453305, 19553636; Phenotypes: Thrombocythemia 1 187950 (rare presentation with congenital limb defects); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFBR2 Tracy Lester reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 2 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFBR1 Tracy Lester reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 1 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFB2 Tracy Lester reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 4 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFB1 Tracy Lester reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Camurati-Engelmann disease 131300 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGDS Tracy Lester reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Catel-Manzke syndrome 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TERT Tracy Lester reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCTN3 Tracy Lester reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: Joubert syndrome 18 614815, Orofaciodigital syndrome IV 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCTN2 Tracy Lester reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meckel syndrome 8 613885, Joubert syndrome 24 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCTEX1D2 Tracy Lester reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCOF1 Tracy Lester reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher Collins syndrome 1 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 TCIRG1 Tracy Lester reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCF12 Tracy Lester reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354436; Phenotypes: Craniosynostosis 3 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal dysplasia v1.147 TBXAS1 Tracy Lester reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ghosal hematodiaphyseal syndrome 231095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TBX6 Tracy Lester reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylocostal dysostosis 5 122600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted