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Skeletal dysplasia v1.153 CEP290 Eleanor Williams Added phenotypes Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189; Joubert syndrome 5 610188; Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10 for gene: CEP290
Skeletal dysplasia v1.153 MKS1 Eleanor Williams Added phenotypes Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990 for gene: MKS1
Skeletal dysplasia v1.153 RECQL4 Eleanor Williams Added phenotypes RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600 for gene: RECQL4
Skeletal dysplasia v1.153 FZD2 Eleanor Williams Added phenotypes Autosomal dominant omodysplasia type 2 164745 for gene: FZD2
Publications for gene FZD2 were changed from 25759469 to 29230162; 30455931; 29383834; 29383830; 25759469
Skeletal dysplasia v1.153 HNRNPK Eleanor Williams Added phenotypes Au-Kline syndrome:616580; Orphanet:453499 for gene: HNRNPK
Publications for gene HNRNPK were changed from 26173930; 26954065; 26638989 to 26173930; 26638989; 26954065
Skeletal dysplasia v1.153 FLNB Eleanor Williams Added phenotypes Spondylocarpotarsal synostosis syndrome 272460; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Atelosteogenesis, type I 108720; Larsen syndrome 150250 for gene: FLNB
Skeletal dysplasia v1.153 AGA Eleanor Williams Added phenotypes Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) for gene: AGA
Skeletal dysplasia v1.153 WISP3 Eleanor Williams Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 for gene: WISP3
Skeletal dysplasia v1.153 FGFR2 Eleanor Williams Added phenotypes Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific Crouzon syndrome 123500; Craniofacial-skeletal-dermatologic dysplasia 101600; Pfeiffer syndrome 101600; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Bent bone dysplasia syndrome 614592 for gene: FGFR2
Skeletal dysplasia v1.153 POR Eleanor Williams Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 for gene: POR
Skeletal dysplasia v1.153 RMRP Eleanor Williams Added phenotypes Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095; Metaphyseal dysplasia without hypotrichosis 250460 for gene: RMRP
Skeletal dysplasia v1.153 POP1 Eleanor Williams Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1
Publications for gene POP1 were changed from 21455487; 27380734; 28067412 to 28067412; 21455487; 27380734
Skeletal dysplasia v1.153 DLX3 Eleanor Williams Added phenotypes Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320 for gene: DLX3
Publications for gene DLX3 were changed from 26762616; 26104267 to 26104267; 26762616
Skeletal dysplasia v1.153 HDAC4 Eleanor Williams Added phenotypes Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Albright hereditary osteodystrophy-like syndrome; Del(2)(q37) 600430 for gene: HDAC4
Publications for gene HDAC4 were changed from 20691407; 15521982; 19365831 to 19365831; 15521982; 20691407; 25402011
Skeletal dysplasia v1.153 NOTCH2 Eleanor Williams Added phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Alagille syndrome 2 610205 for gene: NOTCH2
Skeletal dysplasia v1.153 DLL4 Eleanor Williams Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4
Skeletal dysplasia v1.153 NOTCH1 Eleanor Williams Added phenotypes Limb, scalp and skull defects; AOS; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Adams-Oliver syndrome 5, 616028 for gene: NOTCH1
Publications for gene NOTCH1 were changed from 25132448; 25963545; 27077170; 25132448 to 25963545; 25132448; 27077170
Skeletal dysplasia v1.153 RBPJ Eleanor Williams Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
Publications for gene RBPJ were changed from 22883147; 28160419 to 28160419; 22883147
Skeletal dysplasia v1.153 DOCK6 Eleanor Williams Added phenotypes Adams-Oliver syndrome 2 614219 for gene: DOCK6
Skeletal dysplasia v1.153 ARHGAP31 Eleanor Williams Added phenotypes Adams-Oliver syndrome 1 100300 for gene: ARHGAP31
Publications for gene ARHGAP31 were changed from 21565291; 29924900 to 29924900; 21565291
Skeletal dysplasia v1.153 EOGT Eleanor Williams Added phenotypes Adams Oliver syndrome 4 for gene: EOGT
Skeletal dysplasia v1.153 FBN1 Eleanor Williams Added phenotypes Geleophysic dysplasia 2 614185; Stiff skin syndrome 184900; Marfan syndrome 154700; Acromicric dysplasia 102370; Weill-Marchesani syndrome 2, dominant 608328 for gene: FBN1
Skeletal dysplasia v1.153 NPR2 Eleanor Williams Added phenotypes Acromesomelic dysplasia, Maroteaux type 602875; Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923 for gene: NPR2
Skeletal dysplasia v1.153 GDF5 Eleanor Williams Added phenotypes Brachydactyly, type C 113100; Acromesomelic dysplasia, Hunter-Thompson type 201250; Du Pan syndrome 228900; {Osteoarthritis-5} 612400; Chondrodysplasia, Grebe type 200700; Brachydactyly, type A2 112600; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; Multiple synostoses syndrome 2 610017 for gene: GDF5
Skeletal dysplasia v1.153 BMPR1B Eleanor Williams Added phenotypes Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600; Acromesomelic dysplasia, Demirhan type 609441 for gene: BMPR1B
Skeletal dysplasia v1.153 POLR1A Eleanor Williams Added phenotypes Acrofacial dysostosis, Cincinnati type 616462 for gene: POLR1A
Skeletal dysplasia v1.153 SF3B4 Eleanor Williams Added phenotypes Acrofacial dysostosis 1, Nager type 154400 for gene: SF3B4
Skeletal dysplasia v1.153 PDE4D Eleanor Williams Added phenotypes Acrodysostosis 2, with or without hormone resistance 614613 for gene: PDE4D
Skeletal dysplasia v1.153 PRKAR1A Eleanor Williams Added phenotypes Acrodysostosis 1, with or without hormone resistance 101800 for gene: PRKAR1A
Skeletal dysplasia v1.153 IHH Eleanor Williams Added phenotypes Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500 for gene: IHH
Skeletal dysplasia v1.153 KIF7 Eleanor Williams Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7
Skeletal dysplasia v1.153 FGFR3 Eleanor Williams Added phenotypes Thanatophoric dysplasia, type I 187600; Muenke syndrome 602849; CATSHL syndrome 610474; SADDAN 616482; Thanatophoric dysplasia, type II 187601; Achondroplasia 100800; LADD syndrome 149730; Hypochondroplasia 146000; Crouzon syndrome with acanthosis nigricans 612247 for gene: FGFR3
Skeletal dysplasia v1.153 COL2A1 Eleanor Williams Added phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Spondyloepiphyseal dysplasia, Stanescu type 616583; Stickler sydrome, type I, nonsyndromic ocular 609508; Achondrogenesis, type II or hypochondrogenesis 200610; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; SMED Strudwick type 184250; Spondyloperipheral dysplasia 271700; Platyspondylic skeletal dysplasia, Torrance type 151210; Czech dysplasia 609162; SED congenita 183900; Osteoarthritis with mild chondrodysplasia 604864; Avascular necrosis of the femoral head 608805 for gene: COL2A1
Skeletal dysplasia v1.153 TRIP11 Eleanor Williams Added phenotypes Achondrogenesis, type IA 200600 for gene: TRIP11
Skeletal dysplasia v1.153 LMBR1 Eleanor Williams Added phenotypes Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Hypoplastic or aplastic tibia with polydactyly 188740; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500; Syndactyly, type IV 186200; Acheiropody 200500 for gene: LMBR1
Publications for gene LMBR1 were changed from to 26749485; 11090342
Skeletal dysplasia v1.153 SLC26A2 Eleanor Williams Added phenotypes ACG1B,DD,rMED; multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4 for gene: SLC26A2
Skeletal dysplasia v1.153 SOX9 Eleanor Williams Added phenotypes Campomelic dysplasia with autosomal sex reversal 114290; Acampomelic campomelic dysplasia 114290; Campomelic dysplasia 114290 for gene: SOX9
Skeletal dysplasia v1.153 TWIST2 Eleanor Williams Added phenotypes Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885 for gene: TWIST2
Skeletal dysplasia v1.153 COLEC10 Eleanor Williams Added phenotypes 3MC syndrome 3 -248340 for gene: COLEC10
Publications for gene COLEC10 were changed from to 28301481
Skeletal dysplasia v1.153 COLEC11 Eleanor Williams Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11
Publications for gene COLEC11 were changed from 21258343; 8933348; 2569826 to 21258343; 2569826; 8933348; 28301481
Skeletal dysplasia v1.153 MASP1 Eleanor Williams Added phenotypes 3MC syndrome 1 - 257920 for gene: MASP1
Skeletal dysplasia v1.153 CCDC8 Eleanor Williams Added phenotypes 3-M syndrome 3, 614205 for gene: CCDC8
Skeletal dysplasia v1.153 OBSL1 Eleanor Williams Added phenotypes 3-M syndrome 2 612921 for gene: OBSL1
Skeletal dysplasia v1.153 CUL7 Eleanor Williams Added phenotypes 3-M syndrome 1 273750 for gene: CUL7
Skeletal dysplasia v1.153 FGF9 Eleanor Williams Added phenotypes ?Multiple synostoses syndrome type 3 612961 for gene: FGF9
Skeletal dysplasia v1.153 IFT81 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly -617895 for gene: IFT81
Publications for gene IFT81 were changed from 26275418; 28460050; 27666822 to 27666822; 26275418; 28460050
Skeletal dysplasia v1.153 AGPS Eleanor Williams Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 for gene: AGPS
Skeletal dysplasia v1.153 YY1 Eleanor Williams Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
Skeletal dysplasia v1.153 TMEM38B Eleanor Williams Added phenotypes Osteogenesis imperfecta, type XIV 615066; Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta for gene: TMEM38B
Skeletal dysplasia v1.152 TMCO1 Tracy Lester edited their review of gene: TMCO1: Changed rating: GREEN
Skeletal dysplasia v1.152 THPO Tracy Lester edited their review of gene: THPO: Changed rating: RED
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 ISCA-37420-Loss Eleanor Williams Classified Region: ISCA-37420-Loss as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 ISCA-37420-Loss Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber as some evidence of association of the CNV loss with craniosynostosis. Will discuss on Webex with GMS Musculoskeletal test group
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 ISCA-37420-Loss Eleanor Williams Region: isca-37420-loss has been classified as Amber List (Moderate Evidence).
Common craniosynostosis syndromes v0.12 FGFR3 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Tracy Lester on Craniosynostosis panel - specific GOF variants in ex7 & 10 only
Common craniosynostosis syndromes v0.12 FGFR3 Eleanor Williams Mode of pathogenicity for gene: FGFR3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common craniosynostosis syndromes v0.11 FGFR2 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypes
Common craniosynostosis syndromes v0.11 FGFR2 Eleanor Williams Mode of pathogenicity for gene: FGFR2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common craniosynostosis syndromes v0.10 EFNB1 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - rare example of cellular interference
Common craniosynostosis syndromes v0.10 EFNB1 Eleanor Williams Mode of pathogenicity for gene: EFNB1 was changed from to Other
Common craniosynostosis syndromes v0.9 FGFR1 Eleanor Williams Added comment: Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosis
Common craniosynostosis syndromes v0.9 FGFR1 Eleanor Williams Mode of pathogenicity for gene: FGFR1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common craniosynostosis syndromes v0.8 FGFR3 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.8 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from to Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601
Common craniosynostosis syndromes v0.7 FGFR2 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.7 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Common craniosynostosis syndromes v0.6 FGFR2 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.6 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Rare anaemia v0.35 ABCG8 Louise Daugherty Source London South GLH was added to ABCG8.
Rare anaemia v0.35 ABCG5 Louise Daugherty Source London South GLH was added to ABCG5.
Iron metabolism disorders - NOT common HFE mutations v0.34 CYBRD1 Louise Daugherty Source London South GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.34 ALAS2 Louise Daugherty Source London South GLH was added to ALAS2.
Iron metabolism disorders - NOT common HFE mutations v0.34 GLRX5 Louise Daugherty Source London South GLH was added to GLRX5.
Iron metabolism disorders - NOT common HFE mutations v0.34 SLC25A38 Louise Daugherty Source London South GLH was added to SLC25A38.
Cytopenia - NOT Fanconi anaemia v0.53 RPS29 Louise Daugherty Source London South GLH was added to RPS29.
Cytopenia - NOT Fanconi anaemia v0.53 RPS26 Louise Daugherty Source London South GLH was added to RPS26.
Cytopenia - NOT Fanconi anaemia v0.53 RPS24 Louise Daugherty Source London South GLH was added to RPS24.
Cytopenia - NOT Fanconi anaemia v0.53 RPS19 Louise Daugherty Source London South GLH was added to RPS19.
Cytopenia - NOT Fanconi anaemia v0.53 RPS7 Louise Daugherty Source London South GLH was added to RPS7.
Cytopenia - NOT Fanconi anaemia v0.53 RPL35A Louise Daugherty Source London South GLH was added to RPL35A.
Cytopenia - NOT Fanconi anaemia v0.53 RPL27 Louise Daugherty Source London South GLH was added to RPL27.
Cytopenia - NOT Fanconi anaemia v0.53 RPL26 Louise Daugherty Source London South GLH was added to RPL26.
Cytopenia - NOT Fanconi anaemia v0.53 RPL15 Louise Daugherty Source London South GLH was added to RPL15.
Cytopenia - NOT Fanconi anaemia v0.53 RPL11 Louise Daugherty Source London South GLH was added to RPL11.
Cytopenia - NOT Fanconi anaemia v0.53 RPS10 Louise Daugherty Source London South GLH was added to RPS10.
Cytopenia - NOT Fanconi anaemia v0.53 RPL9 Louise Daugherty Source London South GLH was added to RPL9.
Cytopenia - NOT Fanconi anaemia v0.53 RPL5 Louise Daugherty Source London South GLH was added to RPL5.
Cytopenia - NOT Fanconi anaemia v0.53 GATA1 Louise Daugherty Source London South GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.53 CYCS Louise Daugherty Source London South GLH was added to CYCS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.53 RPS17 Louise Daugherty Source London South GLH was added to RPS17.
Cytopenia - NOT Fanconi anaemia v0.53 RPL31 Louise Daugherty Source London South GLH was added to RPL31.
Cytopenia - NOT Fanconi anaemia v0.53 FYB1 Louise Daugherty Source London South GLH was added to FYB1.
Rare anaemia v0.34 ABCG8 Louise Daugherty commented on gene: ABCG8: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Rare anaemia v0.34 ABCG5 Louise Daugherty commented on gene: ABCG5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Rare anaemia v0.34 RPL27 Louise Daugherty commented on gene: RPL27: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.34 RPL26 Louise Daugherty commented on gene: RPL26: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.34 RPL15 Louise Daugherty commented on gene: RPL15: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.34 RPL9 Louise Daugherty commented on gene: RPL9: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 CYBRD1 Louise Daugherty commented on gene: CYBRD1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 ALAS2 Louise Daugherty commented on gene: ALAS2: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 GLRX5 Louise Daugherty commented on gene: GLRX5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 SLC25A38 Louise Daugherty commented on gene: SLC25A38: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 BMP6 Louise Daugherty commented on gene: BMP6: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS29 Louise Daugherty commented on gene: RPS29: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS26 Louise Daugherty commented on gene: RPS26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS24 Louise Daugherty commented on gene: RPS24: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS19 Louise Daugherty commented on gene: RPS19: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS7 Louise Daugherty commented on gene: RPS7: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL35A Louise Daugherty commented on gene: RPL35A: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL27 Louise Daugherty commented on gene: RPL27: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL26 Louise Daugherty commented on gene: RPL26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL15 Louise Daugherty commented on gene: RPL15: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL11 Louise Daugherty commented on gene: RPL11: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS10 Louise Daugherty commented on gene: RPS10: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL9 Louise Daugherty commented on gene: RPL9: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL5 Louise Daugherty commented on gene: RPL5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 GATA1 Louise Daugherty commented on gene: GATA1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 CYCS Louise Daugherty commented on gene: CYCS: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS17 Louise Daugherty commented on gene: RPS17: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL31 Louise Daugherty commented on gene: RPL31: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 SAMD9L Louise Daugherty commented on gene: SAMD9L: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 SAMD9 Louise Daugherty commented on gene: SAMD9: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 GFI1 Louise Daugherty commented on gene: GFI1: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 FYB1 Louise Daugherty commented on gene: FYB1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Rare anaemia v0.33 ABCG8 Frances Smith reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.33 ABCG5 Frances Smith reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.33 RPL27 Frances Smith edited their review of gene: RPL27: Changed rating: GREEN
Rare anaemia v0.33 RPL26 Frances Smith edited their review of gene: RPL26: Changed rating: GREEN
Rare anaemia v0.33 RPL15 Frances Smith edited their review of gene: RPL15: Changed rating: GREEN
Rare anaemia v0.33 RPL9 Frances Smith edited their review of gene: RPL9: Changed rating: GREEN
Iron metabolism disorders - NOT common HFE mutations v0.32 CYBRD1 Frances Smith reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 ALAS2 Frances Smith reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 GLRX5 Frances Smith reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 SLC25A38 Frances Smith reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 BMP6 Frances Smith edited their review of gene: BMP6: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 RPS29 Frances Smith reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS26 Frances Smith reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS24 Frances Smith reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS19 Frances Smith reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS7 Frances Smith reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL35A Frances Smith reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL27 Frances Smith reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL26 Frances Smith reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL15 Frances Smith reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL11 Frances Smith reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS10 Frances Smith reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL9 Frances Smith reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL5 Frances Smith reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 GATA1 Frances Smith reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 CYCS Frances Smith reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS17 Frances Smith reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL31 Frances Smith reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 SAMD9L Frances Smith edited their review of gene: SAMD9L: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 SAMD9 Frances Smith edited their review of gene: SAMD9: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 GFI1 Frances Smith edited their review of gene: GFI1: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 FYB1 Frances Smith reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.50 RPL26 Louise Daugherty Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11,614900 to ?Diamond-Blackfan anemia 11, 614900
Cytopenia - NOT Fanconi anaemia v0.49 RPL31 Louise Daugherty Phenotypes for gene: RPL31 were changed from to Diamond-Blackfan anaemia
Cytopenia - NOT Fanconi anaemia v0.48 RPS17 Louise Daugherty Publications for gene: RPS17 were set to 22045982; 19953637; 17647292; 19061985
Cytopenia - NOT Fanconi anaemia v0.47 CYCS Louise Daugherty Publications for gene: CYCS were set to
Cytopenia - NOT Fanconi anaemia v0.46 CYCS Louise Daugherty Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4 to 612004 Thrombocytopenia 4; Thrombocytopenia
Cytopenia - NOT Fanconi anaemia v0.45 GATA1 Louise Daugherty Publications for gene: GATA1 were set to 22706301; 24952648; 24766296; 10700180; 24453067
Cytopenia - NOT Fanconi anaemia v0.44 GATA1 Louise Daugherty Phenotypes for gene: GATA1 were changed from 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric to 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric; Anaemia; thrombocytopenia
Cytopenia - NOT Fanconi anaemia v0.43 RPL5 Louise Daugherty Phenotypes for gene: RPL5 were changed from Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia to Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia
Cytopenia - NOT Fanconi anaemia v0.42 RPL9 Louise Daugherty Publications for gene: RPL9 were set to 23718193; 20116044
Cytopenia - NOT Fanconi anaemia v0.41 RPL11 Louise Daugherty Publications for gene: RPL11 were set to 19191325; 19061985
Cytopenia - NOT Fanconi anaemia v0.40 RPL15 Louise Daugherty Publications for gene: RPL15 were set to 23812780; 19438500
Cytopenia - NOT Fanconi anaemia v0.39 RPL35A Louise Daugherty Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia to Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan Anemia 5; Diamond Blackfan anemia
Cytopenia - NOT Fanconi anaemia v0.38 RPS24 Louise Daugherty Publications for gene: RPS24 were set to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388
Cytopenia - NOT Fanconi anaemia v0.37 RPS26 Louise Daugherty Publications for gene: RPS26 were set to 24675553; 25946618; 24942156; 20116044
Cytopenia - NOT Fanconi anaemia v0.36 RPS26 Louise Daugherty Phenotypes for gene: RPS26 were changed from Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia to Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia
Cytopenia - NOT Fanconi anaemia v0.35 RPS29 Louise Daugherty Publications for gene: RPS29 were set to
Cytopenia - NOT Fanconi anaemia v0.34 RPS29 Louise Daugherty Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13, 615909 to Diamond-Blackfan anemia 13, 615909; Diamond-Blackfan anaemia
Cytopenia - NOT Fanconi anaemia v0.33 RPS29 Louise Daugherty Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13 615909 to Diamond-Blackfan anemia 13, 615909
Iron metabolism disorders - NOT common HFE mutations v0.31 SLC25A38 Louise Daugherty Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.30 GLRX5 Louise Daugherty Publications for gene: GLRX5 were set to 30401706; 24003969; 30098397
Iron metabolism disorders - NOT common HFE mutations v0.29 GLRX5 Louise Daugherty Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.28 ALAS2 Louise Daugherty Publications for gene: ALAS2 were set to 30401706; 24003969; 30098397
Iron metabolism disorders - NOT common HFE mutations v0.27 ALAS2 Louise Daugherty Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 to 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.26 CYBRD1 Louise Daugherty Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload to NA IRON OVERLOAD; N/A Primary iron overload; Iron overload
Rare anaemia v0.32 ABCG8 Louise Daugherty Mode of inheritance for gene: ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.31 ABCG5 Louise Daugherty Mode of inheritance for gene: ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.30 RPL27 Louise Daugherty Deleted their comment
Rare anaemia v0.30 RPL27 Louise Daugherty Added comment: Comment on phenotypes: Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Rare anaemia v0.30 RPL27 Louise Daugherty Phenotypes for gene: RPL27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408; 617408 ?Diamond-Blackfan anemia 16 to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Rare anaemia v0.29 RPL27 Louise Daugherty Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v1.149 COL6A3 Louise Daugherty Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Arthrogryposis v2.41 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 to Myasthenia, limb-girdle, familial, 254300; Fetal akinesia deformation sequence, 208150
Hereditary spastic paraplegia, adult onset v0.52 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, adult onset v0.52 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.73 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, adult onset v0.52 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 2365823, 1463019, 23859858; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.148 TPM2 Louise Daugherty Publications for gene: TPM2 were set to
Congenital myopathy v1.147 TPM2 Louise Daugherty Phenotypes for gene: TPM2 were changed from CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285 to CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
Hereditary spastic paraplegia, adult onset v0.52 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.73 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.146 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy 611705 to Myopathy, early-onset, with fatal cardiomyopathy, 611705
Congenital myopathy v1.145 CASQ1 Louise Daugherty Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA) to Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231
Congenital myopathy v1.144 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398; 22818856
Hereditary spastic paraplegia, adult onset v0.52 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.73 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.143 MYPN Louise Daugherty Phenotypes for gene: MYPN were changed from Congenital cap myopathy to Congenital cap myopathy; Nemaline myopathy, 617336
Congenital myopathy v1.142 MYPN Louise Daugherty Publications for gene: MYPN were set to 28220527
Congenital myopathy v1.141 VPS33B Louise Daugherty Phenotypes for gene: VPS33B were changed from vacuolar myopathy? to vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085
Hereditary spastic paraplegia, adult onset v0.52 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.140 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300
Congenital myopathy v1.139 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D, 615065
Congenital myopathy v1.138 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.137 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to 22396310
Congenital myopathy v1.136 KLHL9 Louise Daugherty Phenotypes for gene: KLHL9 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy
Congenital myopathy v1.135 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915
Congenital myopathy v1.134 MYBPC1 Louise Daugherty Publications for gene: MYBPC1 were set to 20045868; 22101682
Congenital myopathy v1.133 PIEZO2 Louise Daugherty Phenotypes for gene: PIEZO2 were changed from Arthrogryposis; KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM to Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146
Congenital myopathy v1.132 PIEZO2 Louise Daugherty Publications for gene: PIEZO2 were set to 27879346; 27858739; 25748484
Congenital myopathy v1.131 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600 to Nemaline myopathy
Congenital myopathy v1.130 TNNC2 Louise Daugherty Phenotypes for gene: TNNC2 were changed from severe congenital myopathy with congenital bone fractures, 616866 to congenital myopathy
Congenital myopathy v1.129 TNNI2 Louise Daugherty Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959 to Arthrogryposis multiplex congenita, distal, type 2B, 601680
Congenital myopathy v1.128 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B, 601680; Myopathy, congenital, Baily-Bloch, 255995 to Arthyrogryposis, distal, type 2B, 601680
Congenital myopathy v1.127 TNNT3 Louise Daugherty Publications for gene: TNNT3 were set to 23736855; 28003463
Congenital myopathy v1.126 TRIP4 Louise Daugherty Phenotypes for gene: TRIP4 were changed from vacuolar myopathy? to severe congenital myopathy with congenital bone fractures, 616866
Congenital myopathy v1.125 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to 23315026
Congenital myopathy v1.124 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680 to Wieacker-Wolff syndrome, 314580
Congenital myopathy v1.123 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to 12592607; 11738357; 17434307
Congenital myopathy v1.122 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856; 28012042
Congenital myopathy v1.121 CCDC78 Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy to Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.120 ZC4H2 Rachael Mein edited their review of gene: ZC4H2: Changed publications: 23623388, 26056227; Changed phenotypes: Wieacker-Wolff syndrome 314580
Congenital myopathy v1.120 VPS33B Rachael Mein edited their review of gene: VPS33B: Changed publications: 15052268, 16896922; Changed phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1 208085
Congenital myopathy v1.120 VMA21 Rachael Mein edited their review of gene: VMA21: Changed publications: 23315026; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 TTN Rachael Mein edited their review of gene: TTN: Changed publications: 17444505, 23975875, 28295036; Changed phenotypes: Myopathy, early-onset, with fatal cardiomyopathy 611705
Congenital myopathy v1.120 TRIP4 Rachael Mein edited their review of gene: TRIP4: Changed publications: 26924529; Changed phenotypes: severe congenital myopathy with congenital bone fractures 616866
Congenital myopathy v1.120 TPM3 Rachael Mein edited their review of gene: TPM3: Changed rating: GREEN; Changed publications: 24692096; Changed phenotypes: CAP myopathy 1 609284, Myopathy, congenital, with fiber-type disproportion 255310, Nemaline myopathy 1, autosomal dominant or recessive 609284
Congenital myopathy v1.120 TPM2 Rachael Mein edited their review of gene: TPM2: Changed publications: 12592607, 11738357, 17434307; Changed phenotypes: CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
Congenital myopathy v1.120 TNNT3 Rachael Mein edited their review of gene: TNNT3: Changed publications: 12865991, 17194691; Changed phenotypes: Arthyrogryposis, distal, type 2B 601680
Congenital myopathy v1.120 TNNT1 Rachael Mein edited their review of gene: TNNT1: Changed publications: 26296490, 25430424; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355
Congenital myopathy v1.120 TNNI2 Rachael Mein edited their review of gene: TNNI2: Changed publications: 16924011, 16924011; Changed phenotypes: Arthrogryposis multiplex congenita, distal, type 2B 601680
Congenital myopathy v1.120 TNNC2 Rachael Mein edited their review of gene: TNNC2: Changed rating: AMBER; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 STIM1 Rachael Mein edited their review of gene: STIM1: Changed publications: 23332920; Changed phenotypes: Myopathy, tubular aggregate, 160565
Congenital myopathy v1.120 STAC3 Rachael Mein edited their review of gene: STAC3: Changed publications: 23736855, 28003463; Changed phenotypes: Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.120 SRPK3 Rachael Mein edited their review of gene: SRPK3: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.120 SPEG Rachael Mein edited their review of gene: SPEG: Changed publications: 25087613; Changed phenotypes: Centronuclear myopathy 5 615959
Congenital myopathy v1.120 SELENON Rachael Mein edited their review of gene: SELENON: Changed publications: 26780752, 16365872; Changed phenotypes: Muscular dystrophy, rigid spine, 1 602771, Myopathy, congenital, with fiber-type disproportion 255310
Congenital myopathy v1.120 SCN4A Rachael Mein edited their review of gene: SCN4A: Changed publications: 26700687; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 RYR1 Rachael Mein edited their review of gene: RYR1: Changed publications: 26799446; Changed phenotypes: Central core disease 117000, Minicore myopathy with external ophthalmoplegia 255320, Neuromuscular disease, congenital, with uniform type 1 fiber 117000, Malignant hyperthermia susceptibility 1 145600
Congenital myopathy v1.120 PIEZO2 Rachael Mein edited their review of gene: PIEZO2: Changed publications: 23487782, 24726473; Changed phenotypes: Arthrogryposis, distal, type3 114300: Arthrogryposis, distal, type5 108145: Arthrogryposis, distal, with proprioception and touch 617146
Congenital myopathy v1.120 ORAI1 Rachael Mein edited their review of gene: ORAI1: Changed publications: 28058752, 25227914; Changed phenotypes: Myopathy, tubular aggregate, 2 615883
Congenital myopathy v1.120 NEB Rachael Mein edited their review of gene: NEB: Changed publications: 12207937; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030
Congenital myopathy v1.120 MYPN Rachael Mein edited their review of gene: MYPN: Changed publications: 28017374; Changed phenotypes: Nemaline myopathy 617336
Congenital myopathy v1.120 MYO18B Rachael Mein edited their review of gene: MYO18B: Changed publications: 27879346, 27858739, 25748484; Changed phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Congenital myopathy v1.120 MYL1 Rachael Mein edited their review of gene: MYL1: Changed publications: 21063730; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 MYH8 Rachael Mein edited their review of gene: MYH8: Changed publications: 17041932; Changed phenotypes: Trismus-pseudocamptodactyly syndrome 158300
Congenital myopathy v1.120 MYH7 Rachael Mein edited their review of gene: MYH7: Changed publications: 15322983; Changed phenotypes: Laing Distal Myopathy 160500
Congenital myopathy v1.120 MYH3 Rachael Mein edited their review of gene: MYH3: Changed publications: 18695058, 26578207; Changed phenotypes: Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110
Congenital myopathy v1.120 MYH2 Rachael Mein edited their review of gene: MYH2: Changed publications: 11114175, 23489661; Changed phenotypes: Proximal myopathy and ophthalmoplegia 605637
Congenital myopathy v1.120 MYBPC3 Rachael Mein edited their review of gene: MYBPC3: Changed publications: 19858127; Changed phenotypes: myopathy and cardiomyopathy
Congenital myopathy v1.120 MYBPC1 Rachael Mein edited their review of gene: MYBPC1: Changed publications: 20045868; Changed phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.120 MTMR14 Rachael Mein edited their review of gene: MTMR14: Changed publications: 19465920; Changed phenotypes: centronuclear myopathy
Congenital myopathy v1.120 MTM1 Rachael Mein edited their review of gene: MTM1: Changed publications: 8640223; Changed phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400
Congenital myopathy v1.120 MEGF10 Rachael Mein edited their review of gene: MEGF10: Changed publications: 22101682; Changed phenotypes: Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Congenital myopathy v1.120 MAP3K20 Rachael Mein edited their review of gene: MAP3K20: Changed publications: 27816943; Changed phenotypes: Centronuclear myopathy 6 with fiber-type disproportion 617760
Congenital myopathy v1.120 LMOD3 Rachael Mein edited their review of gene: LMOD3: Changed publications: 25250574; Changed phenotypes: Nemaline myopathy 10 616165
Congenital myopathy v1.120 LAMP2 Rachael Mein edited their review of gene: LAMP2: Changed publications: 12084876, 21415759; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 KLHL9 Rachael Mein edited their review of gene: KLHL9: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.120 KLHL41 Rachael Mein edited their review of gene: KLHL41: Changed publications: 24268659; Changed phenotypes: Nemaline myopathy 9, 615731 (3)
Congenital myopathy v1.120 KLHL40 Rachael Mein edited their review of gene: KLHL40: Changed publications: 23746549; Changed phenotypes: Nemaline myopathy 8, autosomal recessive, 615348
Congenital myopathy v1.120 KBTBD13 Rachael Mein edited their review of gene: KBTBD13: Changed publications: 21109227; Changed phenotypes: Nemaline Myopathy, Dominant, Nemaline myopathy 6, autosomal dominant, 609273
Congenital myopathy v1.120 HACD1 Rachael Mein edited their review of gene: HACD1: Changed publications: 23933735; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 EPG5 Rachael Mein edited their review of gene: EPG5: Changed publications: 23222957; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 ECEL1 Rachael Mein edited their review of gene: ECEL1: Changed publications: 23261301; Changed phenotypes: Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.120 DOK7 Rachael Mein edited their review of gene: DOK7: Changed publications: 16917026; Changed phenotypes: Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 10 254300
Congenital myopathy v1.120 DNM2 Rachael Mein edited their review of gene: DNM2: Changed publications: 22396310; Changed phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Congenital myopathy v1.120 COL6A3 Rachael Mein edited their review of gene: COL6A3: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL6A2 Rachael Mein edited their review of gene: COL6A2: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL6A1 Rachael Mein edited their review of gene: COL6A1: Changed publications: 25535305, 15955946, 23738969; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL12A1 Rachael Mein edited their review of gene: COL12A1: Changed publications: 24334604; Changed phenotypes: EDS/myopathy overlap syndrome
Congenital myopathy v1.120 CNTN1 Rachael Mein edited their review of gene: CNTN1: Changed publications: 19026398; Changed phenotypes: ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.120 CFL2 Rachael Mein edited their review of gene: CFL2: Changed rating: GREEN; Changed publications: 22560515, 17160903, 24610938; Changed phenotypes: Nemaline myopathy 7, autosomal recessive, 610687, Nemaline Myopathy, Recessive
Congenital myopathy v1.120 CCDC78 Rachael Mein edited their review of gene: CCDC78: Changed publications: 22818856; Changed phenotypes: Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.120 CASQ1 Rachael Mein edited their review of gene: CASQ1: Changed rating: AMBER; Changed publications: 25116801; Changed phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231
Congenital myopathy v1.120 CACNA1S Rachael Mein edited their review of gene: CACNA1S: Changed publications: 28012042; Changed phenotypes: Hypokalemic periodic paralyisis type 1 170400: congenital myopathy
Congenital myopathy v1.120 BIN1 Rachael Mein edited their review of gene: BIN1: Changed rating: GREEN; Changed publications: 17676042; Changed phenotypes: Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200
Congenital myopathy v1.120 ACTN2 Rachael Mein edited their review of gene: ACTN2: Changed rating: AMBER; Changed phenotypes: Multiple structured Core Disease
Congenital myopathy v1.119 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to Multiple structured Core Disease
Congenital myopathy v1.118 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.117 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.116 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v1.115 CCDC78 Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy
Congenital myopathy v1.114 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856
Congenital myopathy v1.113 ACTN2 Louise Daugherty Publications for gene: ACTN2 were set to
Congenital myopathy v1.112 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from to CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284
Congenital myopathy v1.111 ACTN2 Louise Daugherty Mode of inheritance for gene: ACTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myaesthenic syndrome v1.35 Louise Daugherty removed gene:GRN from the panel
Hereditary spastic paraplegia, childhood onset v1.73 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101804, 22022284, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.52 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.73 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.47 MYMK Louise Daugherty Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, 254940
Congenital muscular dystrophy v1.46 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs to Myopathy with extrapyramidal signs, 615673
Congenital muscular dystrophy v1.45 PLEC Louise Daugherty Mode of inheritance for gene: PLEC was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, adult onset v0.52 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; 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
Hereditary spastic paraplegia, childhood onset v1.73 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; 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
Optic neuropathy v1.113 TMEM126A Ivone Leong Classified gene: TMEM126A as Green List (high evidence)
Optic neuropathy v1.113 TMEM126A Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on the additional on case that was found (PMID: 30961538).
Optic neuropathy v1.113 TMEM126A Ivone Leong Gene: tmem126a has been classified as Green List (High Evidence).
Optic neuropathy v1.112 TMEM126A Ivone Leong Publications for gene: TMEM126A were set to 19327736; 20405026; 22815638
Optic neuropathy v1.111 TMEM126A Ivone Leong edited their review of gene: TMEM126A: Added comment: PMID: 30961538 describes a study of 3 affected individuals from 2 unrelated families. A Turkish patient with optic atrophy has a homozygous splice donor variant (c.86+2 T<C) in TMEM126A. Two Iraqi siblings with optic atrophy were found to have a homozygous missense variant (p.S36L) in TMEM126A.; Changed publications: 30961538
Mitochondrial disorders v1.291 VPS13C Ivone Leong Classified gene: VPS13C as Green List (high evidence)
Mitochondrial disorders v1.291 VPS13C Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene.
Mitochondrial disorders v1.291 VPS13C Ivone Leong Gene: vps13c has been classified as Green List (High Evidence).
Mitochondrial disorders v1.290 VPS13C Ivone Leong Publications for gene: VPS13C were set to 26942284
Mitochondrial disorders v1.289 VPS13C Ivone Leong Mode of inheritance for gene: VPS13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.288 VPS13C Ivone Leong Publications for gene: VPS13C were set to 616840
Mitochondrial disorders v1.287 VPS13C Ivone Leong Publications for gene: VPS13C were set to
Hereditary neuropathy v1.79 DCTN1 Louise Daugherty Phenotypes for gene: DCTN1 were changed from {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 to {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome, 168605
Mitochondrial disorders v1.286 VPS13C Ivone Leong Phenotypes for gene: VPS13C were changed from to Parkinson disease 23, autosomal recessive, early onset, 616840
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. UQCC3 is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 25008109 reported on a patient born of consanguineous parents with homozygous variant in this gene. PMID: 28804536 reported on a Turkish patient born of consanguineous parents with two different homozygous variants in this this gene. As there are only 2 cases, currently there is not enough evidence to promote this gene to green. A watchlist tag has also been added.
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.284 UQCC3 Ivone Leong Tag watchlist tag was added to gene: UQCC3.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.67 ARSB Eleanor Williams Publications for gene: ARSB were set to
Mitochondrial disorders v1.284 UQCC3 Ivone Leong Mode of inheritance for gene: UQCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.283 UQCC3 Ivone Leong Publications for gene: UQCC3 were set to
Mitochondrial disorders v1.282 TXN2 Ivone Leong commented on gene: TXN2
Mitochondrial disorders v1.282 TXN2 Ivone Leong Publications for gene: TXN2 were set to PMID: 26626369
Common craniosynostosis syndromes v0.5 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome
Common craniosynostosis syndromes v0.4 TWIST1 Eleanor Williams Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400
Mitochondrial disorders v1.281 STAT2 Ivone Leong Classified gene: STAT2 as Green List (high evidence)
Mitochondrial disorders v1.281 STAT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert reviews. STAT2 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with different variants in this gene.
Mitochondrial disorders v1.281 STAT2 Ivone Leong Gene: stat2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.203 VPS37A Louise Daugherty commented on gene: VPS37A
Hereditary spastic paraplegia v1.203 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia, childhood onset v1.73 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.73 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.203 SLC33A1 Louise Daugherty commented on gene: SLC33A1
Hereditary spastic paraplegia v1.203 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty commented on gene: REEP2: Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty edited their review of gene: REEP2: Added comment: Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019; Changed rating: AMBER
Hereditary spastic paraplegia v1.203 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 DSTYK Louise Daugherty edited their review of gene: DSTYK: Changed rating: AMBER
Hereditary spastic paraplegia v1.203 DSTYK Louise Daugherty commented on gene: DSTYK
Hereditary spastic paraplegia v1.203 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 CDK16 Louise Daugherty commented on gene: CDK16
Hereditary spastic paraplegia v1.203 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.66 SPECC1L Eleanor Williams Publications for gene: SPECC1L were set to 25412741
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65 SPECC1L Eleanor Williams Added comment: Comment on publications: Kruska et al 2015 PMID: 25412741, Bhoj et al 2015 PMID: 26111080
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65 SPECC1L Eleanor Williams Publications for gene: SPECC1L were set to 25412741
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.64 SLC25A24 Eleanor Williams Added comment: Comment on publications: Writzl et al 2017 PMID: 29100094
Ehmke et al 2017 PMID: 29100093
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.64 SLC25A24 Eleanor Williams Publications for gene: SLC25A24 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.63 PTPN11 Eleanor Williams Added comment: Comment on publications: Ueda et al 2017 PMID: 28650561
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.63 PTPN11 Eleanor Williams Publications for gene: PTPN11 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.62 P4HB Eleanor Williams Added comment: Comment on publications: Rauch et al 2015 PMID: 25683117
Ouyang et al 2017 PMID: 29384951
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.62 P4HB Eleanor Williams Publications for gene: P4HB were set to
Hereditary spastic paraplegia, childhood onset v1.72 VPS37A Louise Daugherty Classified gene: VPS37A as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.72 VPS37A Louise Daugherty Gene: vps37a has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.71 VPS37A Louise Daugherty commented on gene: VPS37A: Red rating on Hereditary spastic paraplegia panel 1.198

Comment when marking as ready: single founder Arab mutation further evidence required. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating
Hereditary spastic paraplegia, childhood onset v1.71 VAMP1 Louise Daugherty commented on gene: VAMP1: Red rating on Hereditary spastic paraplegia panel 1.198

Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Rebecca Foulger (Genomics England curator), 24 Oct 2017

Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Rebecca Foulger (Genomics England curator), 12 Oct 2017

Comment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012
emma baple (Genomics England Curator), 10 May 2016
Hereditary spastic paraplegia, childhood onset v1.71 VAMP1 Louise Daugherty Classified gene: VAMP1 as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.71 VAMP1 Louise Daugherty Gene: vamp1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.70 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.70 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.69 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013)
Hereditary spastic paraplegia, childhood onset v1.68 TFG Louise Daugherty commented on gene: TFG: Amber rating on Hereditary spastic paraplegia panel 1.198

Beetz (2013, 23479643) Initial report. Exome study, 2 sibs with early-onset spastic paraplegia, optic atrophy, and neuropathy, with hom c.316C>T (p.R106C). In vitro defect shown in self-assembly. Harlalka (2016, 27492651) also described a c.317G>A (p.R106H) homozygous family, and proposed a founder origin for the c.316C>T variant, as well as a c.316_317 hotspot. further mt invitro studies supportive evidence. Elsayed (2016, 27601211) implicated TGF in one family; homozygous c.64C>T (p.(Arg22Trp) with HSP In Sheffield diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single Indian family currently described in association with HSP
emma baple (Genomics England Curator), 10 May 2016
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.68 TECPR2 Louise Daugherty commented on gene: TECPR2: Red rating on Hereditary spastic paraplegia panel 1.198

Oz-Levi (2012, 23176824 ), ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype. Some functional studies supporting an association. Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies. Currently included in Sheffield's HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

PMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin.
Rebecca Foulger (Genomics England curator), 31 Oct 2017

Comment when marking as ready: limited evidence founder Jewish mutation
emma baple (Genomics England Curator), 10 May 2016
Hereditary spastic paraplegia, childhood onset v1.68 TECPR2 Louise Daugherty Classified gene: TECPR2 as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.68 TECPR2 Louise Daugherty Gene: tecpr2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.202 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.202 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.67 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Amber rating on Hereditary spastic paraplegia panel 1.198

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green review.

Comment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP
emma baple (Genomics England Curator), 10 May 2016

A mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber rating
Hereditary spastic paraplegia, childhood onset v1.67 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.67 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.66 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Green rating on Hereditary spastic paraplegia panel 1.198
Associated with phenotype in OMIM, not in G2P. At least 10 variants reported
Sarah Leigh (Genomics England Curator), 15 Sep 2017
Hereditary spastic paraplegia, childhood onset v1.66 REEP2 Louise Daugherty Classified gene: REEP2 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.66 REEP2 Louise Daugherty Gene: reep2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.65 REEP2 Louise Daugherty commented on gene: REEP2: Amber rating on Hereditary spastic paraplegia panel 1.198

Roda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

Comment on list classification: changed from red to amber based on upon two families
Louise Daugherty (Genomics England Curator), 30 Nov 2017

Known to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663)
Louise Daugherty (Genomics England Curator), 27 Nov 2017
Hereditary spastic paraplegia, childhood onset v1.65 PSEN1 Louise Daugherty commented on gene: PSEN1: Red rating on Hereditary spastic paraplegia panel 1.198.

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green rating.

Comment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating.
Hereditary spastic paraplegia, childhood onset v1.65 PSEN1 Louise Daugherty Classified gene: PSEN1 as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.65 PSEN1 Louise Daugherty Gene: psen1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.64 POLR3A Louise Daugherty Classified gene: POLR3A as Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.64 POLR3A Louise Daugherty Gene: polr3a has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v1.63 POLR3A Louise Daugherty Classified gene: POLR3A as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.63 POLR3A Louise Daugherty Gene: polr3a has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.62 POLR3A Louise Daugherty commented on gene: POLR3A: Red review in file submitted by James Polke but comment denoted Green rating. Need to confirm Green rating so currently rated as Amber.
Hereditary spastic paraplegia, childhood onset v1.62 MTPAP Louise Daugherty commented on gene: MTPAP: Amber rating on Hereditary spastic paraplegia panel 1.198

2 entries on HGMD Pro Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation. p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties. Functional studies showed loss of polyadenylation of mitochondrial transcripts Additional functional characterisation in Wilson (2014, 25008111) Al-Shamsi (2016, 27391121) Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Amber rating
Hereditary spastic paraplegia v1.201 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.201 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.62 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.62 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.61 JAG1 Eleanor Williams Added comment: Comment on publications: Adding PMID: 29530693 - Narro-Donate et al 2018
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.61 JAG1 Eleanor Williams Publications for gene: JAG1 were set to
Hereditary spastic paraplegia, childhood onset v1.61 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.61 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.60 MARS2 Louise Daugherty commented on gene: MARS2: Amber rating on Hereditary spastic paraplegia panel 1.198


Bayat (2012, 22448145) Approx 300b deletion /?duplication/rearrangement, Complex genomic MARS2 rearrangements identified in 54 affected French-Canadian cases belonging to 38 families with a mean age of onset of 24.4 (2–59). Lots of in vivo studies. No HGMD/Pubmed reports of MARS2 rearrangements since this paper, but probably inst being widely tested and if so, large rearrangements aren't particularly amenable to ngs
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Green review.

helen kingston (CMFT NHS Foundation Trust, Manchester) Submitted Green review.
Hereditary spastic paraplegia v1.200 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.200 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.60 MAG Louise Daugherty commented on gene: MAG: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:24482476 (Novarino et al 2014) identified MAG as a HSP candidate gene based on the HSPome (network analysis). In 2 affected sisters from a consanguineous family (family 1226) with AR spastic paraplegia-75, PMID:24482476 identified homozygosity for a c.1288T-G transversion in the MAG gene (C430G).
Rebecca Foulger (Genomics England curator), 18 Dec 2018

1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Red rating.
Hereditary spastic paraplegia, childhood onset v1.60 MAG Louise Daugherty Classified gene: MAG as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.60 MAG Louise Daugherty Gene: mag has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.59 LYST Louise Daugherty edited their review of gene: LYST: Added comment: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:24521565 (Shimazaki et al 2014) include 2 patients in a Japanese family with parents who are first cousins. They detected a homozygous missense variant (c.4189T>G, p.F1397V) in the LYST gene. The patients had adult Chediak-Higashi syndrome (CHS) presenting spastic paraplegia with cerebellar ataxia and neuropathy.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Shimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V). Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype. Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018; Changed publications: 25519960, 25519961, 24521565, 26307451, 25519960, 25519961
Hereditary spastic paraplegia, childhood onset v1.59 LYST Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.59 LYST Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.58 KIF1C Louise Daugherty commented on gene: KIF1C: Amber rating on Hereditary spastic paraplegia panel 1.198

More familailes listed on OMIM (Nov 2018): In affected members of 2 unrelated families with SPAX2, Dor et al. (2014) identified 2 different homozygous mutations in the KIF1C gene (R731X, 603060.0001 and R169W, 603060.0002). The mutations were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies were not performed. In 2 consanguineous families with SPAX2, Novarino et al. (2014) identified homozygous mutations in the KIF1C gene: the R731X mutation previously identified by Dor et al. (2014) and a splice site mutation (603060.0003). Novarino et al. (2014) also identified a homozygous deletion of exons 14-18 of the KIF1C gene (603060.0004) in affected members of the Moroccan family with SPAX2 reported by Bouslam et al. (2007).
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018 Amber rating submitted

One patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewed
Alice Gardham (Genomics England), 19 Jan 2017

Comment when marking as ready: Still only limited evidence
emma baple (Genomics England Curator), 10 May 2016
Hereditary spastic paraplegia, childhood onset v1.58 KIF1C Louise Daugherty Classified gene: KIF1C as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.58 KIF1C Louise Daugherty Gene: kif1c has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.199 KIF1C Louise Daugherty Classified gene: KIF1C as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.199 KIF1C Louise Daugherty Gene: kif1c has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.57 KDM5C Louise Daugherty commented on gene: KDM5C: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence somatic mutation, c.633delG.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:15586325 (Jensen 2005) identifed a L731F variant in 4 members of a family with X-linked complicated spastic paraplegia previously described by Claes et al (2000, PMID:10982473).
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Claes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus; Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype. Currently diagnostic on Sheffield's HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Red rating submitted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.60 HUWE1 Eleanor Williams Added comment: Comment on publications: Adding Moortgat et al 2018 PMID:29180823
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.60 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to 25985138; 25590979
Hereditary spastic paraplegia, childhood onset v1.57 KDM5C Louise Daugherty Classified gene: KDM5C as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.57 KDM5C Louise Daugherty Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.59 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to
Hereditary spastic paraplegia, childhood onset v1.56 IBA57 Louise Daugherty commented on gene: IBA57: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In affected members of a large consanguineous Arab family with AR spastic paraplegia, Lossos et al. (2015, PMID:25609768) identified a homozygous splice site variant in IBA57.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Lossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence. Sources: Literature Provided in Sheffield Lab diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Red rating submitted.
Hereditary spastic paraplegia, childhood onset v1.56 IBA57 Louise Daugherty Classified gene: IBA57 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.56 IBA57 Louise Daugherty Gene: iba57 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.55 GJC2 Louise Daugherty commented on gene: GJC2: Red rating on Hereditary spastic paraplegia panel 1.198

Lots of accounts linking this gene with "Pelizaeus-Merzbacher-like" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikely
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Amber rating submitted.

This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44)." It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance).
Ellen McDonagh (Genomics England Curator), 14 Jun 2016

Only a single family described with this phenotype, many more cases with the above phenotypes
emma baple (Genomics England Curator), 7 Feb 2016 Red rating submitted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.58 FAM20C Eleanor Williams Phenotypes for gene: FAM20C were changed from to Raine syndrome
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.57 FAM20C Eleanor Williams Publications for gene: FAM20C were set to
Hereditary spastic paraplegia, childhood onset v1.55 GJC2 Louise Daugherty Classified gene: GJC2 as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.55 GJC2 Louise Daugherty Gene: gjc2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.54 GCH1 Louise Daugherty commented on gene: GCH1: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review from Helen Brittain- Amber rating is appropriate for now, based upon the two cases and some phenotypic queries.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230).
Rebecca Foulger (Genomics England curator), 28 Jan 2019

Comment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:24509643 (Fan et al 2014) identified a heterozygous GCH1 variant (R216X) by WES in a patient presenting with progressive spastic paraplegia. The R216X variant had been previously reported as causal for dopa-responsive dystonia (MIM:128230), a phenotype that can resemble HSP.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Fan (2014, 24509643) het for nonsense variant previously associated with dopa-responsive dystonia. Authors observe that Dopa-responsive Dystonia can resemble HSP Lee (2011, 21935284), another example of DRD misdiagnosed as Cerebral palsy with GCH1 c.1A>T; p.Met1Leu missense Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Green rating submitted.
Hereditary spastic paraplegia, childhood onset v1.54 GCH1 Louise Daugherty Classified gene: GCH1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.54 GCH1 Louise Daugherty Gene: gch1 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.56 CYP26B1 Eleanor Williams Publications for gene: CYP26B1 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.55 CYP26B1 Eleanor Williams commented on gene: CYP26B1: Laue et al 2011 PMID: 22019272 - 2 families.
Morton et al 2016 PMID: 27410456
Mitochondrial disorders v1.280 STAT2 Ivone Leong Phenotypes for gene: STAT2 were changed from severe neurological deterioration following viral infection; elongated mitochondria to severe neurological deterioration following viral infection; elongated mitochondria; Immunodeficiency 44, 616636
Mitochondrial disorders v1.279 STAT2 Ivone Leong Publications for gene: STAT2 were set to PMID: 26122121
Hereditary spastic paraplegia, childhood onset v1.53 DSTYK Louise Daugherty Classified gene: DSTYK as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.53 DSTYK Louise Daugherty Gene: dstyk has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.52 DSTYK Louise Daugherty commented on gene: DSTYK: Red rating on Hereditary spastic paraplegia panel 1.198

Added 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association.
Rebecca Foulger (Genomics England curator), 11 May 2017

In affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750) Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region.
Rebecca Foulger (Genomics England curator), 11 May 2017
Hereditary spastic paraplegia, childhood onset v1.52 DARS Louise Daugherty commented on gene: DARS: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Wolf (2015, 25527264) report 3 patients with variants in DARS. One patient had typical infantile presentation but 2 patients with onset in late adolescence presented with subacute spastic paraplegia. Patient 1 was compound heterozygous for c.599C>G; p.Ser200Cys and c.830C>T; p.Ser277Phe. Patient 2 was homozygous for c.1277T>C; p.Leu426Ser, and patient 3 compound heterozygous for c.839A>T; p.His280Leu and c.1099G>C; p.Asp367His.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

HGMD: 15 missense, 1 ins associated with: Hypomyelination with brain stem and spinal cord involvement and leg spasticity: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation Taft (2013, 23643384) identiofied compound-heterozygous and homozygous DARS missense variants in 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy Phenotype expanded by Wolf (2015, 25527264) to later onset and subacute spastic paraplegia. Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018
Hereditary spastic paraplegia, childhood onset v1.52 DARS Louise Daugherty Classified gene: DARS as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.52 DARS Louise Daugherty Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.51 CDK16 Louise Daugherty commented on gene: CDK16: Amber rating on Hereditary spastic paraplegia panel 1.198
Not associated with phenotype in OMIM and as a possible G2P. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male.
Sarah Leigh (Genomics England Curator), 19 Dec 2017
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Classified gene: SFXN4 as Green List (high evidence)
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM. PMID: 24119684 describes 2 unrelated patients with different variants in this gene who have mitochondrial disorders. The authors also knocked down this gene in the zebrafish, which caused global mitochondrial and respiratory chain defects. Therefore, there is enough evidence to promote this gene to green.
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Gene: sfxn4 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v1.51 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Rated Red on Hereditary spastic paraplegia panel 1.198.

Amber rating : Hirst et al 2016 (4 families) since PanelApp review (2016)
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018

Red rating: Only one family described to date, further evidence required.
emma baple (Genomics England Curator), 7 Feb 2016
Mitochondrial disorders v1.277 SFXN4 Ivone Leong Publications for gene: SFXN4 were set to
Mitochondrial disorders v1.276 SFXN4 Ivone Leong Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578
Mitochondrial disorders v1.275 SFXN4 Ivone Leong Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.51 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.51 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.274 SDHAF2 Ivone Leong commented on gene: SDHAF2
Hereditary spastic paraplegia, childhood onset v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Changed rating: AMBER
Hereditary spastic paraplegia, childhood onset v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Added comment: Red rating on Hereditary spastic paraplegia panel 1.198

nonsense variant in single family in exome study. Low evidence
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single family only - more evidence required
emma baple (Genomics England Curator), 8 Feb 2016; Changed rating: RED
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Classified gene: PNPLA8 as Green List (high evidence)
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review.
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Gene: pnpla8 has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.55 BRAF Eleanor Williams Publications for gene: BRAF were set to
Mitochondrial disorders v1.273 PNPLA8 Ivone Leong Phenotypes for gene: PNPLA8 were changed from to ?Mitochondrial myopathy with lactic acidosis, 251950
Mitochondrial disorders v1.272 PNPLA8 Ivone Leong Publications for gene: PNPLA8 were set to
Mitochondrial disorders v1.271 PNPLA8 Ivone Leong Mode of inheritance for gene: PNPLA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.54 B3GAT3 Eleanor Williams Publications for gene: B3GAT3 were set to
Mitochondrial disorders v1.270 PDPR Ivone Leong Publications for gene: PDPR were set to PMID: 25558065
Mitochondrial disorders v1.269 NFS1 Ivone Leong commented on gene: NFS1
Mitochondrial disorders v1.269 NFS1 Ivone Leong Publications for gene: NFS1 were set to
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. PMID: 30245030 reported on 4 unrelated children of different ethnicity who have different variants in this gene with the associated phenotype. Therefore, there is enough evidence to promote this gene to green.
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.267 NDUFA6 Ivone Leong Mode of inheritance for gene: NDUFA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.266 NDUFA6 Ivone Leong Publications for gene: NDUFA6 were set to
Mitochondrial disorders v1.265 NDUFA6 Ivone Leong Phenotypes for gene: NDUFA6 were changed from Isolated complex I deficiency; No OMIM phenotype to Isolated complex I deficiency; Mitochondrial complex I deficiency, nuclear type 33, 618253
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong commented on gene: NDUFA13: As there is only one reported case in the literature, there is currently not enough evidence to promote this gene to green status. Therefore, until further evidence is available this gene will remain a red gene.
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong Publications for gene: NDUFA13 were set to
Mitochondrial disorders v1.263 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Added comment: Comment on phenotypes: Removed "{Thyroid carcinoma, Hurthle cell}, 607464" from phenotypes as this phenotype is not relevant to this panel.
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; {Thyroid carcinoma, Hurthle cell}, 607464; Mitochondrial Diseases to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong commented on gene: NDUFA12: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is only one case (PMID: 21617257) of a Pakistani patient with a variant in this gene who has complex I deficiency type 23 manifesting as Leigh syndrome. Therefore, this gene will remain a red gene until further evidence is available.
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong Publications for gene: NDUFA12 were set to
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Added comment: Comment on phenotypes: "Leigh syndrome due to mitochondrial complex 1 deficiency, 256000" has been removed as the OMIM number does not relate to this gene. The OMIM "?Mitochondrial complex I deficiency, nuclear type 23, 618244" is what is reported for this gene in OMIM.
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 to Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Hereditary spastic paraplegia, childhood onset v1.50 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.50 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v1.49 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Sources: Literature
Hereditary spastic paraplegia, adult onset v0.52 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Hereditary spastic paraplegia, adult onset v0.52 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, adult onset v0.51 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Hereditary spastic paraplegia v1.198 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Hereditary spastic paraplegia v1.198 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.259 MTPAP Ivone Leong Publications for gene: MTPAP were set to 20970105; 25008111
Hereditary spastic paraplegia v1.197 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: PMID:30929741 reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1.
Sources: Literature
Mitochondrial disorders v1.258 MTPAP Ivone Leong Publications for gene: MTPAP were set to
Mitochondrial disorders v1.257 MRPS7 Ivone Leong Phenotypes for gene: MRPS7 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 34, 617872
Mitochondrial disorders v1.256 MRPS23 Ivone Leong commented on gene: MRPS23
Mitochondrial disorders v1.256 MRPS23 Ivone Leong Publications for gene: MRPS23 were set to PMID: 26741492
Mitochondrial disorders v1.255 MRPL12 Ivone Leong commented on gene: MRPL12
Mitochondrial disorders v1.255 MRPL12 Ivone Leong Publications for gene: MRPL12 were set to
Mitochondrial disorders v1.254 MPC1 Ivone Leong Classified gene: MPC1 as Green List (high evidence)
Mitochondrial disorders v1.254 MPC1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert reviews and also mouse models for this gene.
Mitochondrial disorders v1.254 MPC1 Ivone Leong Gene: mpc1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.253 MPC1 Ivone Leong Added comment: Comment on publications: PMID: 27176894 and 27835892 describe mouse models of MPC1 (a knockin model and a knockout model) showing the effects MPC1 has on mitochondrial function.
Mitochondrial disorders v1.253 MPC1 Ivone Leong Publications for gene: MPC1 were set to 22628558
Hereditary spastic paraplegia, adult onset v0.50 WDR48 Louise Daugherty Classified gene: WDR48 as Amber List (moderate evidence)
Hereditary spastic paraplegia, adult onset v0.50 WDR48 Louise Daugherty Gene: wdr48 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.252 MPC1 Ivone Leong Publications for gene: MPC1 were set to
Mitochondrial disorders v1.251 MPC1 Ivone Leong Mode of inheritance for gene: MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.250 FXN Ivone Leong Classified gene: FXN as Green List (high evidence)
Mitochondrial disorders v1.250 FXN Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the provided expert reviews. FXN is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene; therefore, there is sufficient evidence to support the promotion of this gene to green status.
Mitochondrial disorders v1.250 FXN Ivone Leong Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disorders v1.249 FXN Ivone Leong Publications for gene: FXN were set to
Mitochondrial disorders v1.248 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.247 FDX2 Ivone Leong Classified gene: FDX2 as Amber List (moderate evidence)
Mitochondrial disorders v1.247 FDX2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber, based on the expert review by Zornitza Stark (Australian Genomics) and the literature.

FDX2 is associated with a phenotype in OMIM and not Gene2Phenotype.

PMID: 24281368 describes a patient born of consanguineous Jewish Moroccan patents with episodic mitochondrial myopathy without optic atrophy or reversible leukoencephalopathy. The authors identified a homozygous missense variant in this gene (M1L).

PMID: 30010796 describes 6 patients from 2 apparently unrelated Brazilian familes from the same geographical region with episodic mitochondrial myopathy. All affected individuals had the same homozygous variant (P144L). No haplotype analysis was performed.

As there are only 2 different variants reported in this gene and no haplotype analysis was performed in PMID: 30010796 it was decided that there is currently not enough evidence to promote this gene to green status. However, a watch-list tag has also been put on this gene.
Mitochondrial disorders v1.247 FDX2 Ivone Leong Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.246 FDX2 Ivone Leong Tag watchlist tag was added to gene: FDX2.
Mitochondrial disorders v1.246 FDX2 Ivone Leong Publications for gene: FDX2 were set to 30010796
Mitochondrial disorders v1.245 FDX2 Ivone Leong Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.242 MYT1 Rebecca Foulger Mode of pathogenicity for gene: MYT1 was changed from to Other
Mitochondrial disorders v1.244 FDX2 Ivone Leong Added comment: Comment on phenotypes: The phenotype was previously "?Mitochondrial myopathy with lactic acidosis, association with, 255125"; however, this OMIM number corresponds to the gene, ISCU. I have removed this OMIM number and replaced with "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900".
Mitochondrial disorders v1.244 FDX2 Ivone Leong Phenotypes for gene: FDX2 were changed from No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Mitochondrial disorders v1.243 FDX2 Ivone Leong Publications for gene: FDX2 were set to
Monogenic hearing loss v1.107 TSPEAR Eleanor Williams Publications for gene: TSPEAR were set to
Monogenic hearing loss v1.106 TJP2 Eleanor Williams Publications for gene: TJP2 were set to PMID: 10601346; 11018256; 12403786; 12704386; 18172007; 18616530; 20602916; 24614073; 25921221; 7951235; 8824195
Monogenic hearing loss v1.105 HGF Eleanor Williams Publications for gene: HGF were set to PMID:11343646; 11564764; 11565020; 12574630; 1386343; 14556002; 14691191; 1531136; 1535333; 15545993; 17467663; 1824873; 1831266; 1837534; 19188684; 19576567; 2142751; 21988987; 21988988; 22763439; 22763448; 2528952; 2531289; 3276728; 7624797; 7854452; 7854453; 8804995; 8898205
Monogenic hearing loss v1.104 CRYM Eleanor Williams Publications for gene: CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354
Monogenic hearing loss v1.103 CRYM Eleanor Williams commented on gene: CRYM: I think the Abe et al 2003 publication referred to by Emma Ashton is PMID: 12471561 not PMID 420014
Mitochondrial disorders v1.242 DNM2 Ivone Leong Publications for gene: DNM2 were set to
Early onset or syndromic epilepsy v1.35 ZNF142 Konstantinos Varvagiannis gene: ZNF142 was added
gene: ZNF142 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Global developmental delay; Intellectual disability; Seizures; Tremor; Dystonia
Penetrance for gene: ZNF142 were set to Incomplete
Review for gene: ZNF142 was set to AMBER
Added comment: Khan et al. (2019 - PMID: 31036918) describe the phenotype of 7 females from 4 families, harboring biallelic likely pathogenic ZNF142 variants.

Overlapping features included cognitive impairment (ID in 6/7 from 3 families, borderline intellectual functioning was reported one occasion), speech impairement and motor impairment (7/7), and variably penetrant seizures (5/7), tremor (4/7) and dystonia (3/7). Most individuals (5/7) had experienced at least one episode of seizures (tonic-clonic) though seizures were recurrent in 3 sibs.

Other disorders with ID (eg. Angelman syndrome, Rett syndrome, chromosomal disorders) or movement disorders as a feature were previously ruled out for many subjects.

6 individuals were homozygous or compound heterozygous for LoF (stopgain or frameshift) variants. One individual harbored 2 missense SNVs in the compound heterozygous state. Variants reported include (NM_001105537.2): c. 817_818delAA (p.Lys273Glufs*32), c.1292delG (p.Cys431Leufs*11), c.3175C>T (p.Arg1059*), c.4183delC (p.Leu1395*), c.3698G>T (p.Cys1233Phe), c.4498C>T (p.Arg1500Trp) with the LoF variants predicted to result in NMD. Expression or functional studies were not carried out.

ZNF142 encodes a C2H2 domain-containing transcription factor. Mutations in other zinc finger proteins (ZNF/zfp) have been reported in several neurodevelopmental disorders impacting the CNS (eg. ZBTB20 and ZBTB11 heterozygous and biallelic mutations, respectively) and/or presenting with movement disorders among their manifestations (eg. YY1).

As the authors comment, homozygous ablation of the orthologous (Zfp142) locus in mice results in behavioral and neurological phenotypes [MGI ref.ID: J:211773 cited - http://www.informatics.jax.org/marker/reference/J:211773 (though Zfp142 or its locus do not seem to appear in the list)].

ZNF142 is not - at least commonly - included in gene panels for ID offered by diagnostic laboratories. It is not associated with any phenotype in OMIM, nor in G2P.

As a result, this gene can be considered for inclusion in the current panel as probably as amber (seizures in 5/7 individuals, though many had a single occurrence) or green.
Sources: Literature
Monogenic diabetes v1.7 DCAF17 Ivone Leong Publications for gene: DCAF17 were set to 20507343; 19026396
Monogenic diabetes v1.6 CEL Ivone Leong Publications for gene: CEL were set to 16369531
Intellectual disability v2.800 ZNF142 Konstantinos Varvagiannis gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Global developmental delay; Intellectual disability; Seizures; Tremor; Dystonia
Penetrance for gene: ZNF142 were set to unknown
Review for gene: ZNF142 was set to GREEN
Added comment: Khan et al. (2019 - PMID: 31036918) describe the phenotype of 7 females from 4 families, harboring biallelic likely pathogenic ZNF142 variants.

Overlapping features included cognitive impairment (ID in 6/7 from 3 families, borderline intellectual functioning was reported one occasion), speech impairement and motor impairment (7/7), and variably penetrant seizures (5/7), tremor (4/7) and dystonia (3/7). Most individuals (5/7) had experienced at least one episode of seizures (tonic-clonic) though seizures were recurrent in 3 sibs.

Other disorders with ID (eg. Angelman syndrome, Rett syndrome, chromosomal disorders) or movement disorders as a feature were previously ruled out for many subjects.

6 individuals were homozygous or compound heterozygous for LoF (stopgain or frameshift) variants. One individual harbored 2 missense SNVs in the compound heterozygous state. Variants reported include (NM_001105537.2): c. 817_818delAA (p.Lys273Glufs*32), c.1292delG (p.Cys431Leufs*11), c.3175C>T (p.Arg1059*), c.4183delC (p.Leu1395*), c.3698G>T (p.Cys1233Phe), c.4498C>T (p.Arg1500Trp) with the LoF variants predicted to result in NMD. Expression or functional studies were not carried out.

ZNF142 encodes a C2H2 domain-containing transcription factor. Mutations in other zinc finger proteins (ZNF/zfp) have been reported in several neurodevelopmental disorders impacting the CNS (eg. ZBTB20 and ZBTB11 heterozygous and biallelic mutations, respectively) and/or presenting with movement disorders among their manifestations (eg. YY1).

As the authors comment, homozygous ablation of the orthologous (Zfp142) locus in mice results in behavioral and neurological phenotypes [MGI ref.ID: J:211773 cited - http://www.informatics.jax.org/marker/reference/J:211773 (though Zfp142 or its locus do not seem to appear in the list)].

ZNF142 is not - at least commonly - included in gene panels for ID offered by diagnostic laboratories. It is not associated with any phenotype in OMIM, nor in G2P.

As a result, this gene can be considered for inclusion in the current panel as probably as green (individuals from 3 families, appropriate degree of ID for the current panel) or amber (if further evidence would be required).
Sources: Literature
Monogenic diabetes v1.5 INSR Ivone Leong Publications for gene: INSR were set to PMID: 8288049
Monogenic diabetes v1.4 HNF4A Ivone Leong Publications for gene: HNF4A were set to
Congenital myopathy v1.110 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310; 15689448
Congenital myopathy v1.109 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310
Mitochondrial DNA maintenance disorder v0.8 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Mitochondrial disorders v1.241 COX8A Sarah Leigh Phenotypes for gene: COX8A were changed from Leigh-like syndrome and epilepsy to ?Mitochondrial complex IV deficiency 220110
Mitochondrial disorders v1.240 COX8A Sarah Leigh Publications for gene: COX8A were set to PMID: 26685157
Mitochondrial disorders v1.239 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to 19268275
Mitochondrial disorders v1.238 COX4I2 Sarah Leigh reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 22592081; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.241 H19 Rebecca Foulger Mode of pathogenicity for gene: H19 was changed from to Other
Fetal anomalies v0.240 TRIM32 Rebecca Foulger commented on gene: TRIM32: Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far.
Fetal anomalies v0.240 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to 30266093
Fetal anomalies v0.239 GK Rebecca Foulger Publications for gene: GK were set to
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Added comment: Comment when marking as ready: Maked TUBB2A as ready on April 30th 2019 following clinical review for fetal relevance, and a literature review for evidence.
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Publications for gene: TUBB2A were set to
Mitochondrial disorders v1.238 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus.
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Fetal anomalies v0.236 TUBB2A Rebecca Foulger Mode of pathogenicity for gene: TUBB2A was changed from to Other
Fetal anomalies v0.235 TUBB2A Rebecca Foulger commented on gene: TUBB2A: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene if there is sufficient evidence. Additional notes from clinical review: Variable CNS features.
Thoracic aortic aneurysm or dissection v1.92 Ellen McDonagh Panel types changed to Rare Disease 100K
Thoracic aortic aneurysm or dissection (GMS) v0.3 Ellen McDonagh Panel name changed from GMS FTAAD placeholder panel to Thoracic aortic aneurysm and dissection
Panel status changed from internal to public
Panel types changed to GMS Rare Disease Virtual
Fetal anomalies v0.235 DNAAF3 Rebecca Foulger Added comment: Comment on phenotypes: 'PRIMARY CILIARY DYSKINEASIA' phenotype comes from DD-Gene2Phenotype. Added in MIM:606763 so the correct spelling is present for search purposes. Ciliary dyskinesia, primary, 2
Fetal anomalies v0.235 DNAAF3 Rebecca Foulger Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
Differences in sex development v1.33 SGPL1 Ivone Leong Classified gene: SGPL1 as Green List (high evidence)
Differences in sex development v1.33 SGPL1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There was agreement to promote to green because experts in paediatric endocrinology agreed that ambiguous genitalia may be the presenting feature in some cases, and an early diagnosis may significantly reduce the chance of adverse clinical outcomes
Differences in sex development v1.33 SGPL1 Ivone Leong Gene: sgpl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.234 NEK1 Rebecca Foulger Added comment: Comment on phenotypes: The 'SHORT RIB-POLYDACTYLY SYNDORME, TYPE II' phenotype comes from Gene2Phenotype. Added 'Short rib-polydactyly Syndrome', together with MIM:263520 so the correct spelling is present for search purposes.
Fetal anomalies v0.234 NEK1 Rebecca Foulger Phenotypes for gene: NEK1 were changed from SHORT RIB-POLYDACTYLY SYNDORME, TYPE II to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II; SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Fetal anomalies v0.233 PCGF2 Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DUSBILITY' phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' so the correct spelling is present for search purposes.
Fetal anomalies v0.233 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability
Fetal anomalies v0.232 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958
Fetal anomalies v0.231 DDX3X Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DIABILITY phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' and the OMIM phenotype so the correct spelling is present for search purposes.
Fetal anomalies v0.231 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY
Mitochondrial disorders v1.237 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: 28409910; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Louise Daugherty reviewed gene: SYNE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Louise Daugherty reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LIMS2 Louise Daugherty reviewed gene: LIMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 HNRNPDL Louise Daugherty reviewed gene: HNRNPDL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DUX4 Louise Daugherty reviewed gene: DUX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BVES Louise Daugherty reviewed gene: BVES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.45 HNRNPDL Louise Daugherty Phenotypes for gene: HNRNPDL were changed from Muscular dystrophy, limb-girdle, type 1G 609115 to Muscular dystrophy, limb-girdle, type 1G 609115; Limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.44 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.43 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.42 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.41 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.40 DES Louise Daugherty Mode of pathogenicity for gene: DES was changed from to Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.39 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.38 DES Louise Daugherty Phenotypes for gene: DES were changed from Muscular dystrophy, limb-girdle, type 2R 615325 to Muscular dystrophy, limb-girdle, type 2R, 615325; myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.37 DES Louise Daugherty Publications for gene: DES were set to 23687351; 11073539; 19433360; 10545598
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.36 DES Louise Daugherty Publications for gene: DES were set to 23687351
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.35 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.34 GNE Louise Daugherty Publications for gene: GNE were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.33 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; congenital muscular dystrophy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.32 ISPD Louise Daugherty Publications for gene: ISPD were set to 23390185
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.31 LIMS2 Louise Daugherty Phenotypes for gene: LIMS2 were changed from Muscular dystrophy, limb-girdle, type 2W 616827 to Muscular dystrophy, limb-girdle, type 2W, 616827; limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.30 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.29 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.28 POMK Louise Daugherty Publications for gene: POMK were set to 24925318; 24556084
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.27 SYNE2 Louise Daugherty Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.26 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.25 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.24 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J 608807 to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.23 TTN Louise Daugherty Publications for gene: TTN were set to 26392295; 12145747
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: 12145747; Phenotypes: Muscular dystrophy, limb-girdle, type 2J, 608807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SYNE2 Natalie Forrester reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SMCHD1 Natalie Forrester reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; Mode of inheritance: Other - please specifiy in evaluation comments
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMK Natalie Forrester reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: 24925318, 29910097; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMGNT2 Natalie Forrester reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 LIMS2 Natalie Forrester reviewed gene: LIMS2: Rating: RED; Mode of pathogenicity: ; Publications: 25589244; Phenotypes: Muscular dystrophy, limb-girdle, type 2W, 616827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 ISPD Natalie Forrester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 23390185, 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 HNRNPDL Natalie Forrester reviewed gene: HNRNPDL: Rating: RED; Mode of pathogenicity: ; Publications: 24647604; Phenotypes: Muscular dystrophy, limb-girdle, type 1G, 609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 GNE Natalie Forrester reviewed gene: GNE: Rating: RED; Mode of pathogenicity: ; Publications: 22883483; Phenotypes: Nonaka myopathy, 605820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DUX4 Natalie Forrester reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Facioscapulohumeral muscular dystrophy, 158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DES Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: 23687351; Phenotypes: Muscular dystrophy, limb-girdle, type 2R, 615325; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DAG1 Natalie Forrester reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25503980, 29036200, 21388311; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 BVES Natalie Forrester reviewed gene: BVES: Rating: RED; Mode of pathogenicity: ; Publications: 26642364; Phenotypes: Muscular dystrophy, limb-girdle, type 2X, 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.237 COQ7 Sarah Leigh Phenotypes for gene: COQ7 were changed from primary coenzyme Q10 deficiency; complex multisystem presentation to ?Coenzyme Q10 deficiency, primary, 8 616733; complex multisystem presentation
Mitochondrial disorders v1.236 COQ7 Sarah Leigh Publications for gene: COQ7 were set to PMID: 26084283
Mitochondrial disorders v1.235 COA5 Sarah Leigh Classified gene: COA5 as Red List (low evidence)
Mitochondrial disorders v1.235 COA5 Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.235 COA5 Sarah Leigh Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.234 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.21 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Mitochondrial disorders v1.233 COA5 Sarah Leigh Publications for gene: COA5 were set to
Mitochondrial disorders v1.232 CEP89 Sarah Leigh Publications for gene: CEP89 were set to PMID: 23575228
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 TTN Louise Daugherty Source NHS GMS was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SYNE2 Louise Daugherty Source NHS GMS was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SMCHD1 Louise Daugherty Source NHS GMS was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMK Louise Daugherty Source NHS GMS was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 LIMS2 Louise Daugherty Source NHS GMS was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 HNRNPDL Louise Daugherty Source NHS GMS was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 GNE Louise Daugherty Source NHS GMS was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DUX4 Louise Daugherty Source NHS GMS was added to DUX4.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DES Louise Daugherty Source NHS GMS was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 BVES Louise Daugherty Source NHS GMS was added to BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 TTN Louise Daugherty Source South West GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SYNE2 Louise Daugherty Source South West GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SMCHD1 Louise Daugherty Source South West GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMK Louise Daugherty Source South West GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMGNT2 Louise Daugherty Source South West GLH was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 LIMS2 Louise Daugherty Source South West GLH was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 ISPD Louise Daugherty Source South West GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 HNRNPDL Louise Daugherty Source South West GLH was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 GNE Louise Daugherty Source South West GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DUX4 Louise Daugherty Source South West GLH was added to DUX4.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DES Louise Daugherty Source South West GLH was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DAG1 Louise Daugherty Source South West GLH was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 BVES Louise Daugherty Source South West GLH was added to BVES.
Mitochondrial disorders v1.231 ATP5E Sarah Leigh Mode of inheritance for gene: ATP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.230 ATP5E Sarah Leigh Publications for gene: ATP5E were set to PMID: 20566710
Mitochondrial disorders v1.229 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Classified gene: ATP5E as Red List (low evidence)
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Gene: atp5e has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Red List (low evidence)
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.226 ATP5A1 Sarah Leigh Mode of inheritance for gene: ATP5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.225 ATP5A1 Sarah Leigh Added comment: Comment on publications: PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency);PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Mitochondrial disorders v1.225 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Congenital myopathy v1.108 DNAJB6 Louise Daugherty Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant to Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511
Congenital myopathy v1.107 TRIP4 Louise Daugherty Phenotypes for gene: TRIP4 were changed from to vacuolar myopathy?
Congenital myopathy v1.106 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to
Congenital myopathy v1.105 TRIP4 Louise Daugherty Mode of inheritance for gene: TRIP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.104 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B 601680 to Arthyrogryposis, distal, type 2B, 601680; Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.103 TNNT3 Louise Daugherty Publications for gene: TNNT3 were set to
Congenital myopathy v1.102 TNNI2 Louise Daugherty Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959
Congenital myopathy v1.101 TNNI2 Louise Daugherty Publications for gene: TNNI2 were set to 16924011; 16924011
Congenital myopathy v1.100 TNNC2 Louise Daugherty Publications for gene: TNNC2 were set to
Congenital myopathy v1.99 TNNC2 Louise Daugherty Phenotypes for gene: TNNC2 were changed from to severe congenital myopathy with congenital bone fractures, 616866
Congenital myopathy v1.98 TNNC2 Louise Daugherty Mode of inheritance for gene: TNNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.97 SRPK3 Louise Daugherty Publications for gene: SRPK3 were set to
Congenital myopathy v1.96 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from to Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600
Congenital myopathy v1.95 SRPK3 Louise Daugherty Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.94 PIEZO2 Louise Daugherty Phenotypes for gene: PIEZO2 were changed from Arthrogryposis to Arthrogryposis; KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Congenital myopathy v1.93 PIEZO2 Louise Daugherty Publications for gene: PIEZO2 were set to
Congenital myopathy v1.92 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.91 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.90 MYBPC1 Louise Daugherty Publications for gene: MYBPC1 were set to 20045868
Congenital myopathy v1.89 KLHL9 Louise Daugherty Phenotypes for gene: KLHL9 were changed from to Nemaline myopathy 8, autosomal recessive, 615348
Congenital myopathy v1.88 KLHL9 Louise Daugherty Publications for gene: KLHL9 were set to
Congenital myopathy v1.87 KLHL9 Louise Daugherty Mode of inheritance for gene: KLHL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.86 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh Deleted their review
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh Deleted their comment
Congenital myopathy v1.85 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh commented on gene: ATP5A1
Congenital myopathy v1.84 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.83 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.82 DOK7 Louise Daugherty Publications for gene: DOK7 were set to
Congenital myopathy v1.81 DOK7 Louise Daugherty Mode of inheritance for gene: DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.80 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680 to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680
Congenital myopathy v1.79 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680
Congenital myopathy v1.78 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to
Congenital myopathy v1.77 ZC4H2 Louise Daugherty Mode of inheritance for gene: ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.76 MAP3K20 Louise Daugherty edited their review of gene: MAP3K20: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.76 MYPN Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TRIP4 Louise Daugherty reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CASQ1 Louise Daugherty reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNC2 Louise Daugherty reviewed gene: TNNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ACTN2 Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ZC4H2 Louise Daugherty reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 VPS33B Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 VMA21 Louise Daugherty reviewed gene: VMA21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TPM3 Louise Daugherty reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TPM2 Louise Daugherty reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNT3 Louise Daugherty reviewed gene: TNNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNT1 Louise Daugherty reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNI2 Louise Daugherty reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 STAC3 Louise Daugherty reviewed gene: STAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SRPK3 Louise Daugherty reviewed gene: SRPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SPEG Louise Daugherty reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SELENON Louise Daugherty edited their review of gene: SELENON: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.76 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 RYR1 Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 PIEZO2 Louise Daugherty reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ORAI1 Louise Daugherty reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 NEB Louise Daugherty reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYO18B Louise Daugherty reviewed gene: MYO18B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYL1 Louise Daugherty reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH8 Louise Daugherty reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH7 Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH3 Louise Daugherty reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH2 Louise Daugherty reviewed gene: MYH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYBPC3 Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYBPC1 Louise Daugherty reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MTMR14 Louise Daugherty reviewed gene: MTMR14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MTM1 Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MEGF10 Louise Daugherty reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 LMOD3 Louise Daugherty reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 LAMP2 Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL9 Louise Daugherty reviewed gene: KLHL9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL41 Louise Daugherty reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL40 Louise Daugherty reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KBTBD13 Louise Daugherty reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 HACD1 Louise Daugherty reviewed gene: HACD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 EPG5 Louise Daugherty reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ECEL1 Louise Daugherty reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 DOK7 Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A3 Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A1 Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL12A1 Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CNTN1 Louise Daugherty reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CFL2 Louise Daugherty reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CCDC78 Louise Daugherty reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CACNA1S Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 BIN1 Louise Daugherty reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ACTA1 Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.230 COG4 Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG to COG4-CDG; Saul-Wilson syndrome, 618150
Congenital myopathy v1.75 MAP3K20 Rachael Mein reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: ; Publications: 23623388, 26056227; Phenotypes: Wieacker-Wolff syndrome, 314580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYPN Rachael Mein reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15052268, 16896922; Phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1, 208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TRIP4 Rachael Mein reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026; Phenotypes: vacuolar myopathy?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CASQ1 Rachael Mein reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17444505, 23975875, 28295036; Phenotypes: Myopathy, early-onset, with fatal cardiomyopathy, 611705; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 TNNC2 Rachael Mein reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: severe congenital myopathy with congenital bone fractures, 616866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.75 ACTN2 Rachael Mein reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24692096; Phenotypes: CAP myopathy 1, 609284, Myopathy, congenital, with fiber-type disproportion, 255310, Nemaline myopathy 1, autosomal dominant or recessive, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 ZC4H2 Rachael Mein reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 11738357, 17434307; Phenotypes: CAP myopathy 2, 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 VPS33B Rachael Mein reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12865991, 17194691; Phenotypes: Arthyrogryposis, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 VMA21 Rachael Mein reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26296490, 25430424; Phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 TTN Rachael Mein reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 16924011, 16924011; Phenotypes: Arthrogryposis multiplex congenita, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TPM3 Rachael Mein reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: congenital myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.75 TPM2 Rachael Mein reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332920; Phenotypes: Myopathy, tubular aggregate, 160565; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TNNT3 Rachael Mein reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23736855, 28003463; Phenotypes: Myopathy, congenital, Baily-Bloch, 255995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 TNNT1 Rachael Mein reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TNNI2 Rachael Mein reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: Centronuclear myopathy 5, 615959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 STIM1 Rachael Mein reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26780752, 16365872; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771, Myopathy, congenital, with fiber-type disproportion, 255310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 STAC3 Rachael Mein reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26700687; Phenotypes: congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 SRPK3 Rachael Mein reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26799446; Phenotypes: Central core disease, 117000, Minicore myopathy with external ophthalmoplegia, 255320, Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Malignant hyperthermia susceptibility 1, 145600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 SPEG Rachael Mein reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: ; Publications: 23487782, 24726473; Phenotypes: Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 SELENON Rachael Mein reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 28058752, 25227914; Phenotypes: Myopathy, tubular aggregate, 2 615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 SCN4A Rachael Mein reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12207937; Phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 RYR1 Rachael Mein reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Nemaline myopathy 617336; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.75 PIEZO2 Rachael Mein reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27879346, 27858739, 25748484; Phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 ORAI1 Rachael Mein reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21063730; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 NEB Rachael Mein reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 17041932; Phenotypes: Trismus-pseudocamptodactyly syndrome, 158300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYO18B Rachael Mein reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322983; Phenotypes: Laing Distal Myopathy, 160500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYL1 Rachael Mein reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18695058, 26578207; Phenotypes: Arthrogryposis, distal, type 2A, 193700, Arthrogryposis, distal, type 2B, 601680, Arthrogryposis, distal, type 8, 178110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYH8 Rachael Mein reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11114175, 23489661; Phenotypes: Proximal myopathy and ophthalmoplegia, 605637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 MYH7 Rachael Mein reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19858127; Phenotypes: myopathy and cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 MYH3 Rachael Mein reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20045868; Phenotypes: Arthrogryposis, distal, type 1B, 614335, Lethal congenital contracture syndrome 4, 614915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 MYH2 Rachael Mein reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465920; Phenotypes: centronuclear myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYBPC3 Rachael Mein reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640223; Phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYBPC1 Rachael Mein reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22101682; Phenotypes: Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MTMR14 Rachael Mein reviewed gene: MTMR14: Rating: GREEN; Mode of pathogenicity: ; Publications: 27816943; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion, 617760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.75 MTM1 Rachael Mein reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25250574; Phenotypes: Nemaline myopathy 10, 616165; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 MEGF10 Rachael Mein reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 12084876, 21415759; Phenotypes: vacuolar myopathy?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 LMOD3 Rachael Mein reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 LAMP2 Rachael Mein reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268659; Phenotypes: Nemaline myopathy 9, 615731; 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
Congenital myopathy v1.75 KLHL9 Rachael Mein reviewed gene: KLHL9: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746549; Phenotypes: Nemaline myopathy 8, autosomal recessive, 615348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 KLHL41 Rachael Mein reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: ; Publications: 21109227; Phenotypes: Nemaline Myopathy, Dominant, Nemaline myopathy 6, autosomal dominant, 609273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 KLHL40 Rachael Mein reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: ; Publications: 23933735; Phenotypes: congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 KBTBD13 Rachael Mein reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957; Phenotypes: vacuolar myopathy?; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 HACD1 Rachael Mein reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: Arthrogryposis, distal, type 5D, 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 EPG5 Rachael Mein reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16917026; Phenotypes: Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 10 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 ECEL1 Rachael Mein reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22396310; Phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 DOK7 Rachael Mein reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 DNM2 Rachael Mein reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 COL6A3 Rachael Mein reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25535305, 15955946, 23738969; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 COL6A2 Rachael Mein reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: EDS/myopathy overlap syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 COL6A1 Rachael Mein reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19026398; Phenotypes: ?Myopathy, congenital, Compton-North, 612540; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 COL12A1 Rachael Mein reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22560515, 17160903, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, 610687, Nemaline Myopathy, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CNTN1 Rachael Mein reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: Myopathy, centronuclear, 4, 614807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CFL2 Rachael Mein reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25116801; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, 616231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.75 CCDC78 Rachael Mein reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 28012042; Phenotypes: Hypokalemic periodic paralyisis type 1, 170400, congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 CACNA1S Rachael Mein reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042; Phenotypes: Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 BIN1 Rachael Mein reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple structured Core Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.75 ACTA1 Rachael Mein reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22825594, 19562689; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v1.35 ACTL6B Konstantinos Varvagiannis gene: ACTL6B was added
gene: ACTL6B was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31031012; 30656450; 26539891; 27171548; 30237576
Phenotypes for gene: ACTL6B were set to Global developmental delay; Intellectual disability; Seizures; Spasticity
Penetrance for gene: ACTL6B were set to Complete
Review for gene: ACTL6B was set to GREEN
Added comment: Epilepsy is a typical feature in individuals with biallelic pathogenic ACTL6B variants, though it is uncommon for the dominant phenotype (only a single individual with seizures probably reported).
Intellectual disability is a prominent feature of the ACTL6B-related disorder, whether this is secondary to biallelic mutations (leading to loss-of-function) or monoallelic ones (probably by a gain-of-function mechanism).

Biallelic ACTL6B mutations: Bell et al. (2019 - PMID: 31031012) report on 11 individuals from 10 families with biallelic variants, adding to 3 individuals from 2 families, recently reported in detail by Fichera et al. (2019 - PMID: 30656450). Previous reports by Karaca et al. (1 individual - 2015 - PMID: 26539891), Sajan et al. (1 individual - 2017 - PMID: 27171548), Maddirevula et al. (2019 - PMID: 30237576) are summarized by Fichera et al. Overlapping features include global DD/ID, epileptic encephalopathy and spasticity.

Monoallelic ACTL6B mutations: Bell et al. (2019 - PMID: 31031012) report on 10 individuals with de novo pathogenic variant, namely a recurrent missense one (9/10 - NM_016188.4:c.1027G>A or p.Gly343Arg) as well as a further missense SNV (c.230A>G or p.Asp77Gly) on one occasion. Features included hypotonia, DD and ID, stereotypic movements, and some possibly suggestive features (wide mouth, diastema, bulbous nose).

ACTL6B (also known as BAF53B) encodes a subunit of the neuron-specific chromatin remodeling complex nBAF.

Some ACTL6B-related phenotypic features were somewhat overlapping to those of other "BAFopathies" (notably Nicolaides-Baraitser and Cofin Siris syndrome - eg. DD/ID, seizures in the recessive type, short phalanges in the dominant one) though others (eg. hair or digital abnormalities) were not observed.

Actl6b knock-out mouse neurons show deficits in dendrite development (cited: Wu et al. 2007 - PMID: 17920018). Additional previous studies have shown deficit in dendritic spine and synapse function in Actl6b KO mice, associated with impaired long-term memory and poor survival (cited: Vogel-Ciernia et al. 2013 - PMID: 23525042).

Bell et al. provide evidence for profound deficits in dendrite develpment in engineered knock-out of ACTL6B in wt human neurons, similar to what was observed in 2 individuals with biallelic mutation. The deficits were reversed upon bi-allelic repair to wild-type or exogenous ACTL6B expression. Additional studies suggested alteration of genomic binding of the BAF complex and transcriptional dysregulation of genes, among other involved in dendrite development.

Loss of ACTL6B function probably explains the recessive phenotype, while a gain-of-function effect is presumed for the dominant one (though the exact mechanism is not known).
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ACTL6B is included in gene panels for ID offered by some diagnostic laboratories.
It is part of the DD panel of G2P, associated with "Unspecified Neurodevelopmental Disorder" (monoallelic variants - disease confidence : probable).
---
As a result ACTL6B can be considered for inclusion in the current panel as green (or amber).
Sources: Literature
Intellectual disability v2.800 ACTL6B Konstantinos Varvagiannis reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31031012, 30656450, 26539891, 27171548, 30237576; Phenotypes: Global developmental delay, Intellectual disability, Seizures, Spasticity, Global developmental delay, Intellectual disability, Stereotypic behavior, Abnormality of the face; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 ZC4H2 Louise Daugherty Source NHS GMS was added to ZC4H2.
Congenital myopathy v1.74 VPS33B Louise Daugherty Source NHS GMS was added to VPS33B.
Congenital myopathy v1.74 VMA21 Louise Daugherty Source NHS GMS was added to VMA21.
Congenital myopathy v1.74 TTN Louise Daugherty Source NHS GMS was added to TTN.
Congenital myopathy v1.74 TRIP4 Louise Daugherty Source NHS GMS was added to TRIP4.
Congenital myopathy v1.74 TPM3 Louise Daugherty Source NHS GMS was added to TPM3.
Congenital myopathy v1.74 TPM2 Louise Daugherty Source NHS GMS was added to TPM2.
Congenital myopathy v1.74 TNNT3 Louise Daugherty Source NHS GMS was added to TNNT3.
Congenital myopathy v1.74 TNNT1 Louise Daugherty Source NHS GMS was added to TNNT1.
Congenital myopathy v1.74 TNNI2 Louise Daugherty Source NHS GMS was added to TNNI2.
Congenital myopathy v1.74 TNNC2 Louise Daugherty Source NHS GMS was added to TNNC2.
Congenital myopathy v1.74 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Congenital myopathy v1.74 STAC3 Louise Daugherty Source NHS GMS was added to STAC3.
Congenital myopathy v1.74 SRPK3 Louise Daugherty Source NHS GMS was added to SRPK3.
Congenital myopathy v1.74 SPEG Louise Daugherty Source NHS GMS was added to SPEG.
Congenital myopathy v1.74 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Congenital myopathy v1.74 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Congenital myopathy v1.74 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Congenital myopathy v1.74 PIEZO2 Louise Daugherty Source NHS GMS was added to PIEZO2.
Congenital myopathy v1.74 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Congenital myopathy v1.74 NEB Louise Daugherty Source NHS GMS was added to NEB.
Congenital myopathy v1.74 MYPN Louise Daugherty Source NHS GMS was added to MYPN.
Congenital myopathy v1.74 MYO18B Louise Daugherty Source NHS GMS was added to MYO18B.
Congenital myopathy v1.74 MYL1 Louise Daugherty Source NHS GMS was added to MYL1.
Congenital myopathy v1.74 MYH8 Louise Daugherty Source NHS GMS was added to MYH8.
Congenital myopathy v1.74 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Congenital myopathy v1.74 MYH3 Louise Daugherty Source NHS GMS was added to MYH3.
Congenital myopathy v1.74 MYH2 Louise Daugherty Source NHS GMS was added to MYH2.
Congenital myopathy v1.74 MYBPC3 Louise Daugherty Source NHS GMS was added to MYBPC3.
Congenital myopathy v1.74 MYBPC1 Louise Daugherty Source NHS GMS was added to MYBPC1.
Congenital myopathy v1.74 MTMR14 Louise Daugherty Source NHS GMS was added to MTMR14.
Congenital myopathy v1.74 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Congenital myopathy v1.74 MEGF10 Louise Daugherty Source NHS GMS was added to MEGF10.
Congenital myopathy v1.74 MAP3K20 Louise Daugherty Source NHS GMS was added to MAP3K20.
Congenital myopathy v1.74 LMOD3 Louise Daugherty Source NHS GMS was added to LMOD3.
Congenital myopathy v1.74 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Congenital myopathy v1.74 KLHL9 Louise Daugherty Source NHS GMS was added to KLHL9.
Congenital myopathy v1.74 KLHL41 Louise Daugherty Source NHS GMS was added to KLHL41.
Congenital myopathy v1.74 KLHL40 Louise Daugherty Source NHS GMS was added to KLHL40.
Congenital myopathy v1.74 KBTBD13 Louise Daugherty Source NHS GMS was added to KBTBD13.
Congenital myopathy v1.74 HACD1 Louise Daugherty Source NHS GMS was added to HACD1.
Congenital myopathy v1.74 EPG5 Louise Daugherty Source NHS GMS was added to EPG5.
Congenital myopathy v1.74 ECEL1 Louise Daugherty Source NHS GMS was added to ECEL1.
Congenital myopathy v1.74 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Congenital myopathy v1.74 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Congenital myopathy v1.74 COL6A3 Louise Daugherty Source NHS GMS was added to COL6A3.
Congenital myopathy v1.74 COL6A2 Louise Daugherty Source NHS GMS was added to COL6A2.
Congenital myopathy v1.74 COL6A1 Louise Daugherty Source NHS GMS was added to COL6A1.
Congenital myopathy v1.74 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Congenital myopathy v1.74 CNTN1 Louise Daugherty Source NHS GMS was added to CNTN1.
Congenital myopathy v1.74 CFL2 Louise Daugherty Source NHS GMS was added to CFL2.
Congenital myopathy v1.74 CCDC78 Louise Daugherty Source NHS GMS was added to CCDC78.
Congenital myopathy v1.74 CASQ1 Louise Daugherty Source NHS GMS was added to CASQ1.
Congenital myopathy v1.74 CACNA1S Louise Daugherty Source NHS GMS was added to CACNA1S.
Congenital myopathy v1.74 BIN1 Louise Daugherty Source NHS GMS was added to BIN1.
Congenital myopathy v1.74 ACTN2 Louise Daugherty Source NHS GMS was added to ACTN2.
Congenital myopathy v1.74 ACTA1 Louise Daugherty Source NHS GMS was added to ACTA1.
Congenital myopathy v1.73 ZC4H2 Louise Daugherty gene: ZC4H2 was added
gene: ZC4H2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: ZC4H2 was set to
Congenital myopathy v1.73 VPS33B Louise Daugherty Source London South GLH was added to VPS33B.
Congenital myopathy v1.73 VMA21 Louise Daugherty Source London South GLH was added to VMA21.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TTN Louise Daugherty Source London South GLH was added to TTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TRIP4 Louise Daugherty gene: TRIP4 was added
gene: TRIP4 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: TRIP4 was set to
Congenital myopathy v1.73 TPM3 Louise Daugherty Source London South GLH was added to TPM3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TPM2 Louise Daugherty Source London South GLH was added to TPM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TNNT3 Louise Daugherty Source London South GLH was added to TNNT3.
Congenital myopathy v1.73 TNNT1 Louise Daugherty Source London South GLH was added to TNNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TNNI2 Louise Daugherty Source London South GLH was added to TNNI2.
Congenital myopathy v1.73 TNNC2 Louise Daugherty gene: TNNC2 was added
gene: TNNC2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: TNNC2 was set to
Congenital myopathy v1.73 STIM1 Louise Daugherty Source London South GLH was added to STIM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 STAC3 Louise Daugherty Source London South GLH was added to STAC3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 SRPK3 Louise Daugherty gene: SRPK3 was added
gene: SRPK3 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: SRPK3 was set to
Congenital myopathy v1.73 SPEG Louise Daugherty Source London South GLH was added to SPEG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 SELENON Louise Daugherty Source London South GLH was added to SELENON.
Congenital myopathy v1.73 SCN4A Louise Daugherty Source London South GLH was added to SCN4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 RYR1 Louise Daugherty Source London South GLH was added to RYR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 PIEZO2 Louise Daugherty Source London South GLH was added to PIEZO2.
Congenital myopathy v1.73 ORAI1 Louise Daugherty Source London South GLH was added to ORAI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 NEB Louise Daugherty Source London South GLH was added to NEB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYPN Louise Daugherty Source London South GLH was added to MYPN.
Congenital myopathy v1.73 MYO18B Louise Daugherty Source London South GLH was added to MYO18B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYL1 Louise Daugherty Source London South GLH was added to MYL1.
Congenital myopathy v1.73 MYH8 Louise Daugherty Source London South GLH was added to MYH8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYH7 Louise Daugherty Source London South GLH was added to MYH7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYH3 Louise Daugherty Source London South GLH was added to MYH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYH2 Louise Daugherty Source London South GLH was added to MYH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYBPC3 Louise Daugherty Source London South GLH was added to MYBPC3.
Congenital myopathy v1.73 MYBPC1 Louise Daugherty Source London South GLH was added to MYBPC1.
Congenital myopathy v1.73 MTMR14 Louise Daugherty Source London South GLH was added to MTMR14.
Congenital myopathy v1.73 MTM1 Louise Daugherty Source London South GLH was added to MTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MEGF10 Louise Daugherty Source London South GLH was added to MEGF10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MAP3K20 Louise Daugherty Source London South GLH was added to MAP3K20.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 LMOD3 Louise Daugherty Source London South GLH was added to LMOD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 LAMP2 Louise Daugherty Source London South GLH was added to LAMP2.
Congenital myopathy v1.73 KLHL9 Louise Daugherty gene: KLHL9 was added
gene: KLHL9 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: KLHL9 was set to
Congenital myopathy v1.73 KLHL41 Louise Daugherty Source London South GLH was added to KLHL41.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 KLHL40 Louise Daugherty Source London South GLH was added to KLHL40.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 KBTBD13 Louise Daugherty Source London South GLH was added to KBTBD13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 HACD1 Louise Daugherty Source London South GLH was added to HACD1.
Congenital myopathy v1.73 EPG5 Louise Daugherty Source London South GLH was added to EPG5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 ECEL1 Louise Daugherty Source London South GLH was added to ECEL1.
Congenital myopathy v1.73 DOK7 Louise Daugherty gene: DOK7 was added
gene: DOK7 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: DOK7 was set to
Congenital myopathy v1.73 DNM2 Louise Daugherty Source London South GLH was added to DNM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL6A3 Louise Daugherty Source London South GLH was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL6A2 Louise Daugherty Source London South GLH was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL6A1 Louise Daugherty Source London South GLH was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL12A1 Louise Daugherty Source London South GLH was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 CNTN1 Louise Daugherty Source London South GLH was added to CNTN1.
Congenital myopathy v1.73 CFL2 Louise Daugherty Source London South GLH was added to CFL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 CCDC78 Louise Daugherty Source London South GLH was added to CCDC78.
Congenital myopathy v1.73 CASQ1 Louise Daugherty Source London South GLH was added to CASQ1.
Congenital myopathy v1.73 CACNA1S Louise Daugherty Source London South GLH was added to CACNA1S.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 BIN1 Louise Daugherty Source London South GLH was added to BIN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 ACTN2 Louise Daugherty gene: ACTN2 was added
gene: ACTN2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: ACTN2 was set to
Congenital myopathy v1.73 ACTA1 Louise Daugherty Source London South GLH was added to ACTA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Fetal anomalies v0.229 ZNF423 Rebecca Foulger Marked gene: ZNF423 as ready
Fetal anomalies v0.229 ZNF423 Rebecca Foulger Added comment: Comment when marking as ready: Marked ZNF423 as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion.
Fetal anomalies v0.229 ZNF423 Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.229 SUFU Rebecca Foulger Marked gene: SUFU as ready
Fetal anomalies v0.229 SUFU Rebecca Foulger Added comment: Comment when marking as ready: Marked SUFU as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion.
Fetal anomalies v0.229 SUFU Rebecca Foulger Gene: sufu has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.34 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 UNC13A Louise Daugherty reviewed gene: UNC13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 TOR1AIP1 Louise Daugherty reviewed gene: TOR1AIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SYT2 Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SYT15 Louise Daugherty reviewed gene: SYT15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SNAP25 Louise Daugherty reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SLC5A7 Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SLC25A1 Louise Daugherty reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SLC18A3 Louise Daugherty reviewed gene: SLC18A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 RYR1 Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 RAPSN Louise Daugherty reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 PREPL Louise Daugherty reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 PLEC Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 MYO9A Louise Daugherty reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 MUSK Louise Daugherty reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 LRP4 Louise Daugherty reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 LAMB2 Louise Daugherty reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 LAMA5 Louise Daugherty reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 GMPPB Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 GFPT1 Louise Daugherty reviewed gene: GFPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 DPAGT1 Louise Daugherty reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 DOK7 Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 COLQ Louise Daugherty reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 COL13A1 Louise Daugherty reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CHRNG Louise Daugherty reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CHRNE Louise Daugherty reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CHRND Louise Daugherty reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CHRNB1 Louise Daugherty reviewed gene: CHRNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CHRNA1 Louise Daugherty reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CHAT Louise Daugherty reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 ALG2 Louise Daugherty reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 ALG14 Louise Daugherty reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.34 AGRN Louise Daugherty reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.33 VAMP1 Louise Daugherty Publications for gene: VAMP1 were set to 28168212
Congenital myaesthenic syndrome v1.32 SYT2 Louise Daugherty Publications for gene: SYT2 were set to 26519543
Congenital myaesthenic syndrome v1.31 MYO9A Louise Daugherty Publications for gene: MYO9A were set to 29462312
Congenital myaesthenic syndrome v1.30 LAMB2 Louise Daugherty Publications for gene: LAMB2 were set to 19251977
Congenital myaesthenic syndrome v1.29 LAMB2 Louise Daugherty Publications for gene: LAMB2 were set to 19251977; 27472506 (Review)
Congenital myaesthenic syndrome v1.28 LAMB2 Louise Daugherty Publications for gene: LAMB2 were set to 19251977
Congenital myaesthenic syndrome v1.27 MYO9A Louise Daugherty Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome; CMS to congenital myasthenic syndrome 24, presynaptic 618198; CMS
Congenital myaesthenic syndrome v1.26 LAMA5 Louise Daugherty Mode of inheritance for gene: LAMA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.25 ALG14 Louise Daugherty Publications for gene: ALG14 were set to 28733338; 23404334
Congenital myaesthenic syndrome v1.24 AGRN Louise Daugherty Publications for gene: AGRN were set to 24951643
Fetal anomalies v0.229 PPM1D Rebecca Foulger Source Expert Review Red was added to PPM1D.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PLP1 Rebecca Foulger Source Expert Review Red was added to PLP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PLCE1 Rebecca Foulger Source Expert Review Red was added to PLCE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 KCNJ11 Rebecca Foulger Source Expert Review Red was added to KCNJ11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 KCNT1 Rebecca Foulger Source Expert Review Red was added to KCNT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 RPGRIP1 Rebecca Foulger Source Expert Review Red was added to RPGRIP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 RPE65 Rebecca Foulger Source Expert Review Red was added to RPE65.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 ROGDI Rebecca Foulger Source Expert Review Red was added to ROGDI.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC4A4 Rebecca Foulger Source Expert Review Red was added to SLC4A4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 GLMN Rebecca Foulger Source Expert Review Red was added to GLMN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 TANGO2 Rebecca Foulger Source Expert Review Red was added to TANGO2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SETD5 Rebecca Foulger Source Expert Review Red was added to SETD5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UBE2A Rebecca Foulger Source Expert Review Red was added to UBE2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UBA5 Rebecca Foulger Source Expert Review Red was added to UBA5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 USB1 Rebecca Foulger Source Expert Review Red was added to USB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UPF3B Rebecca Foulger Source Expert Review Red was added to UPF3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UFM1 Rebecca Foulger Source Expert Review Red was added to UFM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 TSHB Rebecca Foulger Source Expert Review Red was added to TSHB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC25A38 Rebecca Foulger Source Expert Review Red was added to SLC25A38.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC39A13 Rebecca Foulger Source Expert Review Red was added to SLC39A13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC6A8 Rebecca Foulger Source Expert Review Red was added to SLC6A8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC9A6 Rebecca Foulger Source Expert Review Red was added to SLC9A6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SKIV2L Rebecca Foulger Source Expert Review Red was added to SKIV2L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SBDS Rebecca Foulger Source Expert Review Red was added to SBDS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SIX1 Rebecca Foulger Source Expert Review Red was added to SIX1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SCN4A Rebecca Foulger Source Expert Review Red was added to SCN4A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 TEK Rebecca Foulger Source Expert Review Red was added to TEK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SMARCAL1 Rebecca Foulger Source Expert Review Red was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PAX8 Rebecca Foulger Source Expert Review Red was added to PAX8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 WAC Rebecca Foulger Source Expert Review Red was added to WAC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PAX6 Rebecca Foulger Source Expert Review Red was added to PAX6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SPR Rebecca Foulger Source Expert Review Red was added to SPR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.228 PPM1D Rebecca Foulger edited their review of gene: PPM1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PPM1D gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PLP1 Rebecca Foulger edited their review of gene: PLP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PLP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PLCE1 Rebecca Foulger edited their review of gene: PLCE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PLCE1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 KCNJ11 Rebecca Foulger edited their review of gene: KCNJ11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 KCNJ11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 KCNT1 Rebecca Foulger edited their review of gene: KCNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 KCNT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 RPGRIP1 Rebecca Foulger edited their review of gene: RPGRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 RPGRIP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 RPE65 Rebecca Foulger edited their review of gene: RPE65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 RPE65 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 ROGDI Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 ROGDI gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SLC4A4 Rebecca Foulger edited their review of gene: SLC4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SLC4A4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PEX14 Rebecca Foulger edited their review of gene: PEX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 RNASEH2C Rebecca Foulger edited their review of gene: RNASEH2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 RNASEH2B Rebecca Foulger edited their review of gene: RNASEH2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 RNASEH2A Rebecca Foulger edited their review of gene: RNASEH2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SPATA5 Rebecca Foulger edited their review of gene: SPATA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SPRED1 Rebecca Foulger edited their review of gene: SPRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SPG11 Rebecca Foulger edited their review of gene: SPG11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SLC12A6 Rebecca Foulger edited their review of gene: SLC12A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 POGZ Rebecca Foulger edited their review of gene: POGZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 PHIP Rebecca Foulger edited their review of gene: PHIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 GLMN Rebecca Foulger edited their review of gene: GLMN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 GLMN gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TRAPPC9 Rebecca Foulger edited their review of gene: TRAPPC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TANGO2 Rebecca Foulger edited their review of gene: TANGO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 TANGO2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TAF1 Rebecca Foulger edited their review of gene: TAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TRPV4 Rebecca Foulger edited their review of gene: TRPV4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TRIP12 Rebecca Foulger edited their review of gene: TRIP12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SETD5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UBE2A Rebecca Foulger edited their review of gene: UBE2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 UBE2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UBA5 Rebecca Foulger edited their review of gene: UBA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 UBA5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 USB1 Rebecca Foulger edited their review of gene: USB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 USB1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UPF3B Rebecca Foulger edited their review of gene: UPF3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 UPF3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UFM1 Rebecca Foulger edited their review of gene: UFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 UFM1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TSHB Rebecca Foulger edited their review of gene: TSHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 TSHB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TMCO1 Rebecca Foulger edited their review of gene: TMCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SLC25A38 Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SLC25A38 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SLC39A13 Rebecca Foulger edited their review of gene: SLC39A13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SLC39A13 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SLC6A8 Rebecca Foulger edited their review of gene: SLC6A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SLC6A8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SMARCA2 Rebecca Foulger edited their review of gene: SMARCA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SLC9A6 Rebecca Foulger edited their review of gene: SLC9A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SLC9A6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SKIV2L Rebecca Foulger edited their review of gene: SKIV2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SKIV2L gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SBDS Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SBDS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SIX1 Rebecca Foulger edited their review of gene: SIX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SIX1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PRMT7 Rebecca Foulger edited their review of gene: PRMT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SCN4A Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SCN4A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TFAP2B Rebecca Foulger edited their review of gene: TFAP2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TEK Rebecca Foulger edited their review of gene: TEK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 TEK gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TBCD Rebecca Foulger edited their review of gene: TBCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SMARCAL1 Rebecca Foulger edited their review of gene: SMARCAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SMARCAL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PAX8 Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PAX8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 WAC Rebecca Foulger edited their review of gene: WAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 WAC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PAX6 Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PAX6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SPR Rebecca Foulger edited their review of gene: SPR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SPR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SOX10 Rebecca Foulger edited their review of gene: SOX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 PTHLH Rebecca Foulger edited their review of gene: PTHLH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 PEPD Rebecca Foulger edited their review of gene: PEPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.227 PROK2 Rebecca Foulger Publications for gene: PROK2 were set to 17054399
Congenital myaesthenic syndrome v1.23 PREPL Louise Daugherty Publications for gene: PREPL were set to 29483676; 28726805
Congenital myaesthenic syndrome v1.22 ALG14 Louise Daugherty Publications for gene: ALG14 were set to 28733338
Congenital myaesthenic syndrome v1.21 VAMP1 Louise Daugherty Publications for gene VAMP1 were changed from 28253535 to 28168212
Congenital myaesthenic syndrome v1.21 UNC13A Louise Daugherty Publications for gene UNC13A were changed from to 27648472
Congenital myaesthenic syndrome v1.21 SYT2 Louise Daugherty Publications for gene SYT2 were changed from 25192047; 27472506 (Review); 26519543 to 26519543
Congenital myaesthenic syndrome v1.21 SLC25A1 Louise Daugherty Publications for gene SLC25A1 were changed from to 26870663
Congenital myaesthenic syndrome v1.21 SCN4A Louise Daugherty Publications for gene SCN4A were changed from to http://dx.doi.org/10.1016/j.nmd.2015.06.091
Congenital myaesthenic syndrome v1.21 PREPL Louise Daugherty Publications for gene PREPL were changed from 24610330; 27472506 (Review) to 29483676; 28726805
Congenital myaesthenic syndrome v1.21 MYO9A Louise Daugherty Publications for gene MYO9A were changed from 27259756 to 29462312
Congenital myaesthenic syndrome v1.21 LAMB2 Louise Daugherty Publications for gene LAMB2 were changed from 19251977; 27472506 (Review) to 19251977
Congenital myaesthenic syndrome v1.21 LAMA5 Louise Daugherty Publications for gene LAMA5 were changed from to 28544784
Congenital myaesthenic syndrome v1.21 ALG14 Louise Daugherty Publications for gene ALG14 were changed from PMID: 23404334 to 28733338
Congenital myaesthenic syndrome v1.21 AGRN Louise Daugherty Publications for gene AGRN were changed from 22205389; 24951643; 19631309 to 24951643
Congenital myaesthenic syndrome v1.20 RYR1 Louise Daugherty Publications for gene: RYR1 were set to
Congenital myaesthenic syndrome v1.19 RYR1 Louise Daugherty Mode of inheritance for gene: RYR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.18 SLC25A1 Louise Daugherty Mode of inheritance for gene: SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.17 SLC25A1 Louise Daugherty Phenotypes for gene: SLC25A1 were changed from to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197
Congenital myaesthenic syndrome v1.16 TOR1AIP1 Louise Daugherty Mode of inheritance for gene: TOR1AIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.15 UNC13A Louise Daugherty Mode of inheritance for gene: UNC13A was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 VAMP1 Michael Oldridge reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28168212; Phenotypes: Congenital myasthenic syndrome, presynaptic CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 UNC13A Michael Oldridge reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: ; Publications: 27648472; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 TOR1AIP1 Michael Oldridge reviewed gene: TOR1AIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 SYT2 Michael Oldridge reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, 616040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v1.14 SYT15 Michael Oldridge reviewed gene: SYT15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 SNAP25 Michael Oldridge reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myasthenic syndrome, congenital, 18, 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v1.14 SLC5A7 Michael Oldridge reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Hereditory motor neuropathy, Myasthenic syndrome, congenital, 20, presynaptic, 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 SLC25A1 Michael Oldridge reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26870663; Phenotypes: ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 SLC18A3 Michael Oldridge reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, ophthalmopleggia and apnea, Myasthenic syndrome, congenital, 21, presynaptic, 617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 SCN4A Michael Oldridge reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: http://dx.doi.org/10.1016/j.nmd.2015.06.091; Phenotypes: Myasthenic syndrome, congenital, 16, 614198, Congenital Myasthenic Syndrome, Recessive, congenital myasthenic syndromes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 RYR1 Michael Oldridge reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24951453; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 RAPSN Michael Oldridge reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326, acute respiratory crises, late and early onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 PREPL Michael Oldridge reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 29483676, 28726805; Phenotypes: myasthenic syndrome, congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency, ?Myasthenic syndrome, congenital, 22, 616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 PLEC Michael Oldridge reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Plectin deficiency, myasthenic syndrome, Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) 226670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 MYO9A Michael Oldridge reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29462312; Phenotypes: congenital myasthenic syndrome 24, presynaptic 618198, CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 MUSK Michael Oldridge reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325, Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 LRP4 Michael Oldridge reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 17, 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 LAMB2 Michael Oldridge reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19251977; Phenotypes: Congenital myasthenic syndrome, congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations, synaptic congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 LAMA5 Michael Oldridge reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: ; Publications: 28544784; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 GMPPB Michael Oldridge reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, muscular dystrophy-dystroglycanopathy, congenital muscular dystrophy with mental retardation, GMPPB-CMS, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome, MDDGC14 with features of CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 GFPT1 Michael Oldridge reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Myasthenia, congenital, 12, with tubular aggregates, 610542, Limb-girdle congenital myasthenic syndrome, tubular aggregates; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 DPAGT1 Michael Oldridge reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, 608093, Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750, Limb girdle congenital myasthenic, tubular aggregates, congenital disorder of glycosylation type Ij (CDG-IJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 DOK7 Michael Oldridge reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, 254300, Myasthenia, limb-girdle, familial, Limb girdle congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 COLQ Michael Oldridge reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency, Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 COL13A1 Michael Oldridge reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome type 19, Myasthenic syndrome, congenital, 19, 616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CHRNG Michael Oldridge reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenia gravis, neonatal transient, Neonatal congenital myasthenia, escobar syndrome, fetal akinesia deformation sequence syndrome/FADS, multiple pterygium syndrome/MPS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CHRNE Michael Oldridge reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809, Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, Reduced channel conductance syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CHRND Michael Oldridge reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323, Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CHRNB1 Michael Oldridge reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314, Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, Myasthenic syndrome, slow-channel congenital, 601462, Congenital Myasthenic Syndrome, Dominant/Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CHRNA1 Michael Oldridge reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, congenital, 1A, slow-channel, 601462, Myasthenic syndrome, congenital, 1B, fast-channel, 608930, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CHAT Michael Oldridge reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210, Congenital myasthenics sndrome associated with episodic apnea, CMS-EA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 CACNA1A Michael Oldridge reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v1.14 ALG2 Michael Oldridge reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndromes, Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, Congenital disorder of glycosylation CDG type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 ALG14 Michael Oldridge reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 28733338; Phenotypes: Congenital myasthenic syndrome, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.14 AGRN Michael Oldridge reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24951643; Phenotypes: Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Congenital myaesthenic syndrome v1.13 UNC13A Louise Daugherty Source NHS GMS was added to UNC13A.
Congenital myaesthenic syndrome v1.13 TOR1AIP1 Louise Daugherty Source NHS GMS was added to TOR1AIP1.
Congenital myaesthenic syndrome v1.13 SYT2 Louise Daugherty Source NHS GMS was added to SYT2.
Congenital myaesthenic syndrome v1.13 SYT15 Louise Daugherty Source NHS GMS was added to SYT15.
Congenital myaesthenic syndrome v1.13 SNAP25 Louise Daugherty Source NHS GMS was added to SNAP25.
Congenital myaesthenic syndrome v1.13 SLC5A7 Louise Daugherty Source NHS GMS was added to SLC5A7.
Congenital myaesthenic syndrome v1.13 SLC25A1 Louise Daugherty Source NHS GMS was added to SLC25A1.
Congenital myaesthenic syndrome v1.13 SLC18A3 Louise Daugherty Source NHS GMS was added to SLC18A3.
Congenital myaesthenic syndrome v1.13 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Congenital myaesthenic syndrome v1.13 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Congenital myaesthenic syndrome v1.13 RAPSN Louise Daugherty Source NHS GMS was added to RAPSN.
Congenital myaesthenic syndrome v1.13 PREPL Louise Daugherty Source NHS GMS was added to PREPL.
Congenital myaesthenic syndrome v1.13 PLEC Louise Daugherty Source NHS GMS was added to PLEC.
Congenital myaesthenic syndrome v1.13 MYO9A Louise Daugherty Source NHS GMS was added to MYO9A.
Congenital myaesthenic syndrome v1.13 MUSK Louise Daugherty Source NHS GMS was added to MUSK.
Congenital myaesthenic syndrome v1.13 LRP4 Louise Daugherty Source NHS GMS was added to LRP4.
Congenital myaesthenic syndrome v1.13 LAMB2 Louise Daugherty Source NHS GMS was added to LAMB2.
Congenital myaesthenic syndrome v1.13 LAMA5 Louise Daugherty Source NHS GMS was added to LAMA5.
Congenital myaesthenic syndrome v1.13 GMPPB Louise Daugherty Source NHS GMS was added to GMPPB.
Congenital myaesthenic syndrome v1.13 GFPT1 Louise Daugherty Source NHS GMS was added to GFPT1.
Congenital myaesthenic syndrome v1.13 DPAGT1 Louise Daugherty Source NHS GMS was added to DPAGT1.
Congenital myaesthenic syndrome v1.13 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Congenital myaesthenic syndrome v1.13 COLQ Louise Daugherty Source NHS GMS was added to COLQ.
Congenital myaesthenic syndrome v1.13 COL13A1 Louise Daugherty Source NHS GMS was added to COL13A1.
Congenital myaesthenic syndrome v1.13 CHRNG Louise Daugherty Source NHS GMS was added to CHRNG.
Congenital myaesthenic syndrome v1.13 CHRNE Louise Daugherty Source NHS GMS was added to CHRNE.
Congenital myaesthenic syndrome v1.13 CHRND Louise Daugherty Source NHS GMS was added to CHRND.
Congenital myaesthenic syndrome v1.13 CHRNB1 Louise Daugherty Source NHS GMS was added to CHRNB1.
Congenital myaesthenic syndrome v1.13 CHRNA1 Louise Daugherty Source NHS GMS was added to CHRNA1.
Congenital myaesthenic syndrome v1.13 CHAT Louise Daugherty Source NHS GMS was added to CHAT.
Congenital myaesthenic syndrome v1.13 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Congenital myaesthenic syndrome v1.13 ALG2 Louise Daugherty Source NHS GMS was added to ALG2.
Congenital myaesthenic syndrome v1.13 ALG14 Louise Daugherty Source NHS GMS was added to ALG14.
Congenital myaesthenic syndrome v1.13 AGRN Louise Daugherty Source NHS GMS was added to AGRN.
Congenital myaesthenic syndrome v1.12 VAMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1.
Congenital myaesthenic syndrome v1.12 UNC13A Louise Daugherty gene: UNC13A was added
gene: UNC13A was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: UNC13A was set to
Congenital myaesthenic syndrome v1.12 TOR1AIP1 Louise Daugherty gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TOR1AIP1 was set to
Congenital myaesthenic syndrome v1.12 SYT2 Louise Daugherty Source Wessex and West Midlands GLH was added to SYT2.
Congenital myaesthenic syndrome v1.12 SYT15 Louise Daugherty gene: SYT15 was added
gene: SYT15 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SYT15 was set to
Congenital myaesthenic syndrome v1.12 SNAP25 Louise Daugherty Source Wessex and West Midlands GLH was added to SNAP25.
Congenital myaesthenic syndrome v1.12 SLC5A7 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC5A7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 SLC25A1 Louise Daugherty gene: SLC25A1 was added
gene: SLC25A1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC25A1 was set to
Congenital myaesthenic syndrome v1.12 SLC18A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC18A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 SCN4A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN4A.
Congenital myaesthenic syndrome v1.12 RYR1 Louise Daugherty gene: RYR1 was added
gene: RYR1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RYR1 was set to
Congenital myaesthenic syndrome v1.12 RAPSN Louise Daugherty Source Wessex and West Midlands GLH was added to RAPSN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 PREPL Louise Daugherty Source Wessex and West Midlands GLH was added to PREPL.
Congenital myaesthenic syndrome v1.12 PLEC Louise Daugherty Source Wessex and West Midlands GLH was added to PLEC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 MYO9A Louise Daugherty Source Wessex and West Midlands GLH was added to MYO9A.
Congenital myaesthenic syndrome v1.12 MUSK Louise Daugherty Source Wessex and West Midlands GLH was added to MUSK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 LRP4 Louise Daugherty Source Wessex and West Midlands GLH was added to LRP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 LAMB2 Louise Daugherty Source Wessex and West Midlands GLH was added to LAMB2.
Congenital myaesthenic syndrome v1.12 LAMA5 Louise Daugherty gene: LAMA5 was added
gene: LAMA5 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LAMA5 was set to
Congenital myaesthenic syndrome v1.12 GMPPB Louise Daugherty Source Wessex and West Midlands GLH was added to GMPPB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 GFPT1 Louise Daugherty Source Wessex and West Midlands GLH was added to GFPT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 DPAGT1 Louise Daugherty Source Wessex and West Midlands GLH was added to DPAGT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 DOK7 Louise Daugherty Source Wessex and West Midlands GLH was added to DOK7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 COLQ Louise Daugherty Source Wessex and West Midlands GLH was added to COLQ.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 COL13A1 Louise Daugherty Source Wessex and West Midlands GLH was added to COL13A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CHRNG Louise Daugherty Source Wessex and West Midlands GLH was added to CHRNG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CHRNE Louise Daugherty Source Wessex and West Midlands GLH was added to CHRNE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CHRND Louise Daugherty Source Wessex and West Midlands GLH was added to CHRND.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CHRNB1 Louise Daugherty Source Wessex and West Midlands GLH was added to CHRNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CHRNA1 Louise Daugherty Source Wessex and West Midlands GLH was added to CHRNA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CHAT Louise Daugherty Source Wessex and West Midlands GLH was added to CHAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome v1.12 CACNA1A Louise Daugherty gene: CACNA1A was added
gene: CACNA1A was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CACNA1A was set to
Congenital myaesthenic syndrome v1.12 ALG2 Louise Daugherty Source Wessex and West Midlands GLH was added to ALG2.
Congenital myaesthenic syndrome v1.12 ALG14 Louise Daugherty Source Wessex and West Midlands GLH was added to ALG14.
Congenital myaesthenic syndrome v1.12 AGRN Louise Daugherty Source Wessex and West Midlands GLH was added to AGRN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.44 TMEM5 Louise Daugherty Publications for gene TMEM5 were changed from to 16282978
Congenital muscular dystrophy v1.44 SIL1 Louise Daugherty Publications for gene SIL1 were changed from to 11528383
Congenital muscular dystrophy v1.44 SELENON Louise Daugherty Publications for gene SELENON were changed from to 23217329
Congenital muscular dystrophy v1.44 POMT2 Louise Daugherty Publications for gene POMT2 were changed from to 15894594; 17559086
Congenital muscular dystrophy v1.44 POMT1 Louise Daugherty Publications for gene POMT1 were changed from to 12369018
Congenital muscular dystrophy v1.44 POMK Louise Daugherty Publications for gene POMK were changed from to 23519211; 24556084
Congenital muscular dystrophy v1.44 POMGNT2 Louise Daugherty Publications for gene POMGNT2 were changed from to 22958903; 27066570
Congenital muscular dystrophy v1.44 POMGNT1 Louise Daugherty Publications for gene POMGNT1 were changed from to 11709191; 12588800
Congenital muscular dystrophy v1.44 MICU1 Louise Daugherty Publications for gene MICU1 were changed from to 24336167
Congenital muscular dystrophy v1.44 LARGE1 Louise Daugherty Publications for gene LARGE1 were changed from to 12966029
Congenital muscular dystrophy v1.44 LAMA2 Louise Daugherty Publications for gene LAMA2 were changed from to 12552556; 7550355
Congenital muscular dystrophy v1.44 ITGA7 Louise Daugherty Publications for gene ITGA7 were changed from 9590299; 26076707; 18045857 to 9590299; 18045857; 26076707
Congenital muscular dystrophy v1.44 ISPD Louise Daugherty Publications for gene ISPD were changed from to 22522420, 22522421
Congenital muscular dystrophy v1.44 GMPPB Louise Daugherty Publications for gene GMPPB were changed from 23768512; 26133662 to 26133662; 23768512
Congenital muscular dystrophy v1.44 FKTN Louise Daugherty Publications for gene FKTN were changed from to 12601708; 14627679
Congenital muscular dystrophy v1.44 FKRP Louise Daugherty Publications for gene FKRP were changed from to 11592034
Congenital muscular dystrophy v1.44 DPM2 Louise Daugherty Publications for gene DPM2 were changed from 23109149; 19901254 to 19901254; 23109149
Congenital muscular dystrophy v1.44 DPM1 Louise Daugherty Publications for gene DPM1 were changed from 23856421; 23109149 to 23109149; 23856421
Congenital muscular dystrophy v1.44 DOLK Louise Daugherty Publications for gene DOLK were changed from 23890587; 22242004; 17273964 to 17273964; 22242004; 23890587
Congenital muscular dystrophy v1.44 DAG1 Louise Daugherty Publications for gene DAG1 were changed from 25934851; 24052401; 22810924 (functional evidence); 26380289 (review of mouse models) to 26380289; 24052401; 25934851; 22810924
Congenital muscular dystrophy v1.44 COL6A3 Louise Daugherty Publications for gene COL6A3 were changed from to 15689448
Congenital muscular dystrophy v1.44 COL6A2 Louise Daugherty Publications for gene COL6A2 were changed from to 15689448
Congenital muscular dystrophy v1.44 COL6A1 Louise Daugherty Publications for gene COL6A1 were changed from to 15955946; 23738969; 25535305
Congenital muscular dystrophy v1.44 COL4A2 Louise Daugherty Publications for gene COL4A2 were changed from 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy to 22037604
Congenital muscular dystrophy v1.44 COL12A1 Louise Daugherty Publications for gene COL12A1 were changed from 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy. to 24334769; 24334604; 27348394
Congenital muscular dystrophy v1.44 CHKB Louise Daugherty Publications for gene CHKB were changed from to 16371353, 21665002
Congenital muscular dystrophy v1.44 B4GAT1 Louise Daugherty Publications for gene B4GAT1 were changed from 23359570; 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1 to 23877401; 23359570
Congenital muscular dystrophy v1.43 TRAPPC11 Louise Daugherty reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 TMEM5 Louise Daugherty edited their review of gene: TMEM5: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 SELENON Louise Daugherty edited their review of gene: SELENON: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 POMT2 Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMT1 Louise Daugherty reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMGNT1 Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POGLUT1 Louise Daugherty reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 PLEC Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 MSTO1 Louise Daugherty reviewed gene: MSTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 MICU1 Louise Daugherty reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 LARGE1 Louise Daugherty edited their review of gene: LARGE1: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 LAMA2 Louise Daugherty reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 ITGA7 Louise Daugherty reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 INPP5K Louise Daugherty reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 GOLGA2 Louise Daugherty reviewed gene: GOLGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 GMPPB Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 FKRP Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DPM3 Louise Daugherty reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DPM2 Louise Daugherty reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DPM1 Louise Daugherty reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DOLK Louise Daugherty reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL6A3 Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL6A1 Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL4A2 Louise Daugherty reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL12A1 Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 CHKB Louise Daugherty reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 BET1 Louise Daugherty reviewed gene: BET1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 B4GAT1 Louise Daugherty reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 B3GALNT2 Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.42 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Congenital muscular dystrophy v1.41 SIL1 Louise Daugherty Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.40 POGLUT1 Louise Daugherty Publications for gene: POGLUT1 were set to
Congenital muscular dystrophy v1.39 POGLUT1 Louise Daugherty Phenotypes for gene: POGLUT1 were changed from to ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Congenital muscular dystrophy v1.38 POGLUT1 Louise Daugherty Mode of inheritance for gene: POGLUT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.37 PLEC Louise Daugherty Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670 to Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670
Congenital muscular dystrophy v1.36 PLEC Louise Daugherty Publications for gene: PLEC were set to
Congenital muscular dystrophy v1.35 MSTO1 Louise Daugherty Mode of inheritance for gene: MSTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.34 MSTO1 Louise Daugherty Phenotypes for gene: MSTO1 were changed from to Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675
Congenital muscular dystrophy v1.33 MSTO1 Louise Daugherty Publications for gene: MSTO1 were set to
Congenital muscular dystrophy v1.32 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Congenital muscular dystrophy v1.31 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Congenital muscular dystrophy v1.30 GOSR2 Louise Daugherty Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.29 GOLGA2 Louise Daugherty Phenotypes for gene: GOLGA2 were changed from to Secondary dystroglycanopathy
Congenital muscular dystrophy v1.28 GOLGA2 Louise Daugherty Mode of inheritance for gene: GOLGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.27 BET1 Louise Daugherty Phenotypes for gene: BET1 were changed from to Congenital muscular dystrophy with epilepsy
Congenital muscular dystrophy v1.26 BET1 Louise Daugherty Mode of inheritance for gene: BET1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.25 DPM1 Louise Daugherty Publications for gene: DPM1 were set to 23856421 - an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan immunostaining with glycoepitope-specific antibodies in a pattern diagnostic of dystroglycanopathy. The infant was compound heterozygous for a novel missense variant and an intragenic deletion from exons 3-7. In vitro studies showed decreased DPM1 activity in fibroblasts, and reduced binding to DPM3; 23109149 - DPM2-CDG links the congenital disorders of glycosylation to the congenital muscular dystrophies
Congenital muscular dystrophy v1.24 TRAPPC11 Rachael Mein reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 26322222; Phenotypes: Congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract, infantile-onset muscle weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 TMEM5 Rachael Mein reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16282978; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 10, 615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 SIL1 Rachael Mein reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 SELENON Rachael Mein reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 23217329; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMT2 Rachael Mein reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15894594, 17559086; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMT1 Rachael Mein reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12369018; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA,1 236670: type B,1, 613155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMK Rachael Mein reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519211, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMGNT2 Rachael Mein reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903, 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type, Walker-Warburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMGNT1 Rachael Mein reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11709191, 12588800; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POGLUT1 Rachael Mein reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27807076; Phenotypes: ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 PLEC Rachael Mein reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 21109228; Phenotypes: Muscular dystrophy, limb-girdle autosomal recessive 17, 613723, Epidermolysis bullosa simplex with muscular dystrophy, 226670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 MSTO1 Rachael Mein reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28544275; Phenotypes: Congenital muscular dystrophy with Brain involvment, Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 MICU1 Rachael Mein reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24336167; Phenotypes: Myopathy with extrapyramidal signs, 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 LARGE1 Rachael Mein reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12966029; Phenotypes: Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 LAMA2 Rachael Mein reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550355, 12552556; Phenotypes: Congenital Muscular Dystrophy, LAMA2-related, Muscular dystrophy, congenital merosin-deficient, 607855, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 ITGA7 Rachael Mein reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299, 26076707, 18045857; Phenotypes: Congenital Muscular Dystrophy, ITGA7-related, Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 ISPD Rachael Mein reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 22522421; Phenotypes: Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type, Walker-Warburg syndrome (WWS), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 INPP5K Rachael Mein reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: ; Publications: 28190459, 28190456; Phenotypes: Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy, Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 GOSR2 Rachael Mein reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29855340; Phenotypes: Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 GOLGA2 Rachael Mein reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: secondary dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 GMPPB Rachael Mein reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512, 26133662; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 FKTN Rachael Mein reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 14627679, 12601708; Phenotypes: Fukuyama congenital muscular dystrophy, Fukuyama Congenital Muscular Dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 FKRP Rachael Mein reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11592034; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DPM3 Rachael Mein reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565; Phenotypes: Congenital muscular dystrophies, Congenital disorder of glycosylation, type Io 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DPM2 Rachael Mein reviewed gene: DPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23109149, 19901254; Phenotypes: Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy, Congenital disorder of glycosylation, type Iu 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DPM1 Rachael Mein reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23856421, 23109149; Phenotypes: congenital muscular dystrophies, Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DOLK Rachael Mein reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23890587, 22242004, 17273964; Phenotypes: Congenital disorder of glycosylation, type Im; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DAG1 Rachael Mein reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25934851, 24052401, 22810924, 26380289; Phenotypes: Congenital muscular dystrophies, congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538, Walker-Warburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL6A3 Rachael Mein reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL6A2 Rachael Mein reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL6A1 Rachael Mein reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25535305, 15955946, 23738969; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL4A2 Rachael Mein reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: ; Publications: 22037604; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL4A1 Rachael Mein reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28056338, 22037604, 21625620; Phenotypes: walker warburg syndrome, muscle eye brain disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL12A1 Rachael Mein reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604, 27348394, 24334769; Phenotypes: Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 CHKB Rachael Mein reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16371353, 21665002; Phenotypes: Congenital Muscular Dystrophy, CKHB-related, Muscular dystrophy, congenital, megaconial type, 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 BET1 Rachael Mein reviewed gene: BET1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital muscular dystrophy with epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 B4GAT1 Rachael Mein reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 B3GALNT2 Rachael Mein reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11, congenital muscular dystrophies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.226 TRIM32 Rebecca Foulger Marked gene: TRIM32 as ready
Fetal anomalies v0.226 TRIM32 Rebecca Foulger Added comment: Comment when marking as ready: Marked TRIM32 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 TRIM32 Rebecca Foulger Gene: trim32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 TBX22 Rebecca Foulger Marked gene: TBX22 as ready
Fetal anomalies v0.226 TBX22 Rebecca Foulger Added comment: Comment when marking as ready: Marked TBX22 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 TBX22 Rebecca Foulger Gene: tbx22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 GNAI1 Rebecca Foulger Marked gene: GNAI1 as ready
Fetal anomalies v0.226 GNAI1 Rebecca Foulger Added comment: Comment when marking as ready: Marked GNAI1 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 GNAI1 Rebecca Foulger Gene: gnai1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Marked gene: CTDP1 as ready
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Added comment: Comment when marking as ready: Marked CTDP1 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 WNT3 Rebecca Foulger Marked gene: WNT3 as ready
Fetal anomalies v0.226 WNT3 Rebecca Foulger Added comment: Comment when marking as ready: Marked WNT3 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 WNT3 Rebecca Foulger Gene: wnt3 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.23 TRAPPC11 Louise Daugherty Source NHS GMS was added to TRAPPC11.
Congenital muscular dystrophy v1.23 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Congenital muscular dystrophy v1.23 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Congenital muscular dystrophy v1.23 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Congenital muscular dystrophy v1.23 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Congenital muscular dystrophy v1.23 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Congenital muscular dystrophy v1.23 POMK Louise Daugherty Source NHS GMS was added to POMK.
Congenital muscular dystrophy v1.23 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Congenital muscular dystrophy v1.23 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Congenital muscular dystrophy v1.23 POGLUT1 Louise Daugherty Source NHS GMS was added to POGLUT1.
Congenital muscular dystrophy v1.23 PLEC Louise Daugherty Source NHS GMS was added to PLEC.
Congenital muscular dystrophy v1.23 MSTO1 Louise Daugherty Source NHS GMS was added to MSTO1.
Congenital muscular dystrophy v1.23 MICU1 Louise Daugherty Source NHS GMS was added to MICU1.
Congenital muscular dystrophy v1.23 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Congenital muscular dystrophy v1.23 LAMA2 Louise Daugherty Source NHS GMS was added to LAMA2.
Congenital muscular dystrophy v1.23 ITGA7 Louise Daugherty Source NHS GMS was added to ITGA7.
Congenital muscular dystrophy v1.23 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Congenital muscular dystrophy v1.23 INPP5K Louise Daugherty Source NHS GMS was added to INPP5K.
Congenital muscular dystrophy v1.23 GOSR2 Louise Daugherty Source NHS GMS was added to GOSR2.
Congenital muscular dystrophy v1.23 GOLGA2 Louise Daugherty Source NHS GMS was added to GOLGA2.
Congenital muscular dystrophy v1.23 GMPPB Louise Daugherty Source NHS GMS was added to GMPPB.
Congenital muscular dystrophy v1.23 FKTN Louise Daugherty Source NHS GMS was added to FKTN.
Congenital muscular dystrophy v1.23 FKRP Louise Daugherty Source NHS GMS was added to FKRP.
Congenital muscular dystrophy v1.23 DPM3 Louise Daugherty Source NHS GMS was added to DPM3.
Congenital muscular dystrophy v1.23 DPM2 Louise Daugherty Source NHS GMS was added to DPM2.
Congenital muscular dystrophy v1.23 DPM1 Louise Daugherty Source NHS GMS was added to DPM1.
Congenital muscular dystrophy v1.23 DOLK Louise Daugherty Source NHS GMS was added to DOLK.
Congenital muscular dystrophy v1.23 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Congenital muscular dystrophy v1.23 COL6A3 Louise Daugherty Source NHS GMS was added to COL6A3.
Congenital muscular dystrophy v1.23 COL6A2 Louise Daugherty Source NHS GMS was added to COL6A2.
Congenital muscular dystrophy v1.23 COL6A1 Louise Daugherty Source NHS GMS was added to COL6A1.
Congenital muscular dystrophy v1.23 COL4A2 Louise Daugherty Source NHS GMS was added to COL4A2.
Congenital muscular dystrophy v1.23 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Congenital muscular dystrophy v1.23 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Congenital muscular dystrophy v1.23 CHKB Louise Daugherty Source NHS GMS was added to CHKB.
Congenital muscular dystrophy v1.23 BET1 Louise Daugherty Source NHS GMS was added to BET1.
Congenital muscular dystrophy v1.23 B4GAT1 Louise Daugherty Source NHS GMS was added to B4GAT1.
Congenital muscular dystrophy v1.23 B3GALNT2 Louise Daugherty Source NHS GMS was added to B3GALNT2.
Congenital muscular dystrophy v1.22 TRAPPC11 Louise Daugherty Source London South GLH was added to TRAPPC11.
Congenital muscular dystrophy v1.22 TMEM5 Louise Daugherty Source London South GLH was added to TMEM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 SIL1 Louise Daugherty gene: SIL1 was added
gene: SIL1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: SIL1 was set to
Congenital muscular dystrophy v1.22 SELENON Louise Daugherty Source London South GLH was added to SELENON.
Congenital muscular dystrophy v1.22 POMT2 Louise Daugherty Source London South GLH was added to POMT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMT1 Louise Daugherty Source London South GLH was added to POMT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMK Louise Daugherty Source London South GLH was added to POMK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMGNT2 Louise Daugherty Source London South GLH was added to POMGNT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMGNT1 Louise Daugherty Source London South GLH was added to POMGNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POGLUT1 Louise Daugherty gene: POGLUT1 was added
gene: POGLUT1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: POGLUT1 was set to
Congenital muscular dystrophy v1.22 PLEC Louise Daugherty Source London South GLH was added to PLEC.
Congenital muscular dystrophy v1.22 MSTO1 Louise Daugherty gene: MSTO1 was added
gene: MSTO1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: MSTO1 was set to
Congenital muscular dystrophy v1.22 MICU1 Louise Daugherty Source London South GLH was added to MICU1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 LARGE1 Louise Daugherty Source London South GLH was added to LARGE1.
Congenital muscular dystrophy v1.22 LAMA2 Louise Daugherty Source London South GLH was added to LAMA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 ITGA7 Louise Daugherty Source London South GLH was added to ITGA7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 ISPD Louise Daugherty Source London South GLH was added to ISPD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 INPP5K Louise Daugherty Source London South GLH was added to INPP5K.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 GOSR2 Louise Daugherty gene: GOSR2 was added
gene: GOSR2 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: GOSR2 was set to
Congenital muscular dystrophy v1.22 GOLGA2 Louise Daugherty gene: GOLGA2 was added
gene: GOLGA2 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: GOLGA2 was set to
Congenital muscular dystrophy v1.22 GMPPB Louise Daugherty Source London South GLH was added to GMPPB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 FKTN Louise Daugherty Source London South GLH was added to FKTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 FKRP Louise Daugherty Source London South GLH was added to FKRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 DPM3 Louise Daugherty Source London South GLH was added to DPM3.
Congenital muscular dystrophy v1.22 DPM2 Louise Daugherty Source London South GLH was added to DPM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 DPM1 Louise Daugherty Source London South GLH was added to DPM1.
Congenital muscular dystrophy v1.22 DOLK Louise Daugherty Source London South GLH was added to DOLK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 DAG1 Louise Daugherty Source London South GLH was added to DAG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL6A3 Louise Daugherty Source London South GLH was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL6A2 Louise Daugherty Source London South GLH was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL6A1 Louise Daugherty Source London South GLH was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL4A2 Louise Daugherty Source London South GLH was added to COL4A2.
Congenital muscular dystrophy v1.22 COL4A1 Louise Daugherty Source London South GLH was added to COL4A1.
Congenital muscular dystrophy v1.22 COL12A1 Louise Daugherty Source London South GLH was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 CHKB Louise Daugherty Source London South GLH was added to CHKB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 BET1 Louise Daugherty gene: BET1 was added
gene: BET1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: BET1 was set to
Congenital muscular dystrophy v1.22 B4GAT1 Louise Daugherty Source London South GLH was added to B4GAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 B3GALNT2 Louise Daugherty Source London South GLH was added to B3GALNT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Fetal anomalies v0.226 CWC27 Rebecca Foulger Publications for gene CWC27 were changed from to 28285769
Fetal anomalies v0.226 WNT3 Rebecca Foulger Source Expert Review Amber was added to WNT3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Source Expert Review Amber was added to CTDP1.
Publications for gene CTDP1 were changed from to 24690360; 14517542; 20301787; 29174527
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.226 TAPT1 Rebecca Foulger Source Expert Review Green was added to TAPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 EDAR Rebecca Foulger Source Expert Review Red was added to EDAR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 ITPR1 Rebecca Foulger Source Expert Review Red was added to ITPR1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 MYT1 Rebecca Foulger Source Expert Review Green was added to MYT1.
Publications for gene MYT1 were changed from 28612832; 27358179 to 27358179; 28612832
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 BMP2 Rebecca Foulger Source Expert Review Green was added to BMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 MAOA Rebecca Foulger Source Expert Review Red was added to MAOA.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 MAFB Rebecca Foulger Source Expert Review Green was added to MAFB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 DEAF1 Rebecca Foulger Source Expert Review Red was added to DEAF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 PCGF2 Rebecca Foulger Source Expert Review Green was added to PCGF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 SIM1 Rebecca Foulger Source Expert Review Red was added to SIM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.226 SPTBN2 Rebecca Foulger Source Expert Review Red was added to SPTBN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.226 FBXO11 Rebecca Foulger Source Expert Review Red was added to FBXO11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.226 TBL1XR1 Rebecca Foulger Source Expert Review Green was added to TBL1XR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.225 COQ9 Rebecca Foulger edited their review of gene: COQ9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Diagnostic variant in PAGE study - fetus with dilated heart, pericardial effusion, anhydramnios, IUGR. ; Changed rating: GREEN
Fetal anomalies v0.225 CWC27 Rebecca Foulger edited their review of gene: CWC27: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 28285769
Fetal anomalies v0.225 SLC35A2 Rebecca Foulger edited their review of gene: SLC35A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 WNT3 Rebecca Foulger commented on gene: WNT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Currently insufficient evidence for fetally-relevant Tetra-Amelia syndrome.
Fetal anomalies v0.225 G6PC3 Rebecca Foulger edited their review of gene: G6PC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: G6PC3 was originally added to the Fetal anomalies panel from the PAGE Additional gene list. G6PC3 is not yet associated with a disorder in Gene2Phenotype but is associated in OMIM with Dursun syndrome and Neutropenia, severe congenital 4, autosomal recessive (both MIM:612541). Since structural features were noted in some patients, it was decided that on balance G6PC3 should be included on the panel.; Changed rating: GREEN
Fetal anomalies v0.225 CTDP1 Rebecca Foulger edited their review of gene: CTDP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Although CTDP1 has a 'confirmed' Disease confidence rating in DD-G2P for CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, the disorder is prevalent in Bulagarian Gypsy populations, and is limited to a founder variant.; Changed publications: 14517542, 29174527, 20301787, 24690360
Fetal anomalies v0.225 TAPT1 Rebecca Foulger edited their review of gene: TAPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 EDAR Rebecca Foulger edited their review of gene: EDAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: In agreement with previous review by Deirdre Cilliers, no structural phenotypes would present on a fetal scan. Action taken: Demoted EDAR gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 ITPR1 Rebecca Foulger edited their review of gene: ITPR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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. Demoted ITPR1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 H3F3A Rebecca Foulger edited their review of gene: H3F3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: H3F3A was demoted to Red as it is no longer associated with a disorder in Gene2Phenotype, and has no associated disorder in OMIM.; Changed rating: RED
Fetal anomalies v0.225 MYT1 Rebecca Foulger edited their review of gene: MYT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: There is no disorder in OMIM assocaited with MYT1, but Oculo-auriculo-vertebral spectrum (OAVS, also called Goldenhar) is described in two papers from same group- PMID:28612832 and PMID:27358179. There are 3 MYT1 variants from these 2 papers (2 missense, 1 nonsense) in OAVS patients so just meets evidence threshold. Caution was taken given the genetic heterogeneity and non-genetic factors associated with OAVS/Goldenhar. However on balance it was decided that the 3 literature variants are sufficient evidence for inclusion of MYT1 on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28612832, 27358179
Fetal anomalies v0.225 BMP2 Rebecca Foulger edited their review of gene: BMP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Action taken: Updated rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.225 MAOA Rebecca Foulger edited their review of gene: MAOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 features. Action taken: Demoted MAOA gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 MAFB Rebecca Foulger edited their review of gene: MAFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: In agreement with previous DEAF1 review from Deirdre Cilliers, no structural features would present on a fetal scan. Action taken: Demoted DEAF1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 VPS53 Rebecca Foulger edited their review of gene: VPS53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 PCGF2 Rebecca Foulger edited their review of gene: PCGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 SIM1 Rebecca Foulger edited their review of gene: SIM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SIM1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 C11orf70 Rebecca Foulger edited their review of gene: C11orf70: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 TOP3A Rebecca Foulger edited their review of gene: TOP3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 SUZ12 Rebecca Foulger edited their review of gene: SUZ12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Fetal relevance is borderline- PMIDs:28229514 and 30019515 report a set of features where it is unclear if they would be detected prenatally, including one case of increased head circumference at birth (but also one case with reduced head circumference at birth) some facial and limb features etc. Evidence wise, there are just enough cases from the literature (2 papers from the same group) to support inclusion: Imagawa et al., 2017 (PMID:28229514) identified a missense somatic mosaic mutation (c.1829A>T, p.Glu610Val) in SUZ12 in a patient with clinically suspected Weaver syndrome. Imagawa et al., 2018 (PMID:30019515) report two further Weaver syndrome-like patients with SUZ12 variants (a missense and a frameshift). On balance, it was decided that SUZ12 should be included on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28229514, 30019515
Fetal anomalies v0.225 SPTBN2 Rebecca Foulger edited their review of gene: SPTBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 SPTBN2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.225 SEPSECS Rebecca Foulger edited their review of gene: SEPSECS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 FBXO11 Rebecca Foulger edited their review of gene: FBXO11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 FBXO11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.225 DNAH9 Rebecca Foulger edited their review of gene: DNAH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 CACNA1E Rebecca Foulger edited their review of gene: CACNA1E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 TBL1XR1 Rebecca Foulger edited their review of gene: TBL1XR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include based on combination of (subtle) phenotypes. Action taken: Upgraded TBL1XR1 from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.225 DDX3X Rebecca Foulger edited their review of gene: DDX3X: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although clefting is not a consistent feature (DDX3X is Amber on the V1.34 Clefting panel in PanelApp), there are enough other phenotypes to warrant inclusion.; Changed rating: GREEN
Hereditary neuropathy v1.78 DNMT1 Louise Daugherty Phenotypes for gene: DNMT1 were changed from Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy to Neuropathy, hereditary sensory, type IE, 614116; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy
Hereditary neuropathy v1.77 EGR2 Louise Daugherty Phenotypes for gene: EGR2 were changed from Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 to Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1
Dilated Cardiomyopathy and conduction defects v1.55 FKTN Matthew Edwards reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: 17878207, 18177472, 18752264 , 19266496, 27065010; Phenotypes: Walker-Warburg syndrome (WWS), Fukuyama congenital muscular dystrophy, Cardiomyopathy, dilated, 1X; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.76 EGR2 Louise Daugherty Phenotypes for gene: EGR2 were changed from Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 ; Charcot-Marie-Tooth, Type 1; others to Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1
Hereditary neuropathy v1.75 DST Louise Daugherty Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
Hereditary neuropathy v1.74 ATL1 Louise Daugherty Phenotypes for gene: ATL1 were changed from other; Neuropathy, hereditary sensory, type ID, 613708 to Neuropathy, hereditary sensory, type ID, 613708
Hereditary neuropathy v1.73 DNMT1 Louise Daugherty Phenotypes for gene: DNMT1 were changed from other; Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116; other; Dementia, Deafness, and Sensory Neuropathy ; Neuropathy, hereditary sensory, type IE, 614116 to Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy
Hereditary neuropathy v1.72 DYNC1H1 Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600 to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
Hereditary neuropathy v1.71 DYNC1H1 Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; others to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
Hereditary neuropathy v1.70 TRPV4 Louise Daugherty Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071 to Hereditary motor and sensory neuropathy, type IIc, 606071
Hereditary neuropathy v1.69 DHTKD1 Louise Daugherty Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; other; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750 to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750
Hereditary neuropathy v1.68 INF2 Louise Daugherty Phenotypes for gene: INF2 were changed from Charcot Marie Tooth disease, dominant intermediate E, 614455; other to Charcot Marie Tooth disease, dominant intermediate E, 614455
Hereditary neuropathy v1.67 KIF1A Louise Daugherty Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, 614213; others; Hereditary Sensory and Autonomic Neuropathy, Type II to Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Added comment: Comment on phenotypes: Charcot-Marie-Tooth, Type 2 (Dominant);MFN2 axonal neuropathy;MFN2 axonal neuropathy ;Charcot-Marie-Tooth, Type 2 (Dominant);Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152;Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive);Hereditary Motor and Sensory Neuropathy (Recessive)
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; other; other; MFN2 axonal neuropathy ; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive) to Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive)
Hereditary neuropathy v1.65 MME Louise Daugherty Phenotypes for gene: MME were changed from Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 to Charcot-Marie-Tooth disease, axonal, type 2T, 617017
Hereditary neuropathy v1.64 TRPV4 Louise Daugherty Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071; other disorders; other disorders; others to Hereditary motor and sensory neuropathy, type IIc, 606071
Fetal anomalies v0.224 RAB39B Rebecca Foulger Deleted their comment
Hereditary neuropathy v1.63 ZFYVE27 Louise Daugherty reviewed gene: ZFYVE27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 YARS Louise Daugherty commented on gene: YARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 WNK1 Louise Daugherty commented on gene: WNK1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 WASHC5 Louise Daugherty edited their review of gene: WASHC5: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.63 VCL Louise Daugherty reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TWNK Louise Daugherty edited their review of gene: TWNK: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.63 TTPA Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TTBK2 Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TRPV4 Louise Daugherty commented on gene: TRPV4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 TRIM2 Louise Daugherty commented on gene: TRIM2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 TPM1 Louise Daugherty reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TNNT2 Louise Daugherty reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TNNI3 Louise Daugherty reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TNNC1 Louise Daugherty reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TMEM43 Louise Daugherty reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TDP1 Louise Daugherty reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TCAP Louise Daugherty reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TAZ Louise Daugherty reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SYT2 Louise Daugherty commented on gene: SYT2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SPTLC2 Louise Daugherty commented on gene: SPTLC2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SPTLC1 Louise Daugherty commented on gene: SPTLC1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SPART Louise Daugherty edited their review of gene: SPART: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.63 SOX10 Louise Daugherty reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SOS1 Louise Daugherty reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SLC5A7 Louise Daugherty commented on gene: SLC5A7: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SLC52A1 Louise Daugherty commented on gene: SLC52A1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SLC12A6 Louise Daugherty commented on gene: SLC12A6: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SH3TC2 Louise Daugherty commented on gene: SH3TC2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SGCD Louise Daugherty reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SEPT9 Louise Daugherty commented on gene: SEPT9: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SCN9A Louise Daugherty commented on gene: SCN9A: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SCN5A Louise Daugherty reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SBF2 Louise Daugherty commented on gene: SBF2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 SBF1 Louise Daugherty commented on gene: SBF1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 RYR2 Louise Daugherty reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 RIT1 Louise Daugherty reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 RETREG1 Louise Daugherty commented on gene: RETREG1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 RBM20 Louise Daugherty reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 RAF1 Louise Daugherty reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 RAB7A Louise Daugherty commented on gene: RAB7A: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 PTPN11 Louise Daugherty reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PRX Louise Daugherty commented on gene: PRX: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 PRPS1 Louise Daugherty commented on gene: PRPS1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 PRKCG Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PRKAG2 Louise Daugherty reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PMP22 Louise Daugherty commented on gene: PMP22: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PLN Louise Daugherty reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PLEKHG5 Louise Daugherty commented on gene: PLEKHG5: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 PKP2 Louise Daugherty reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PDLIM3 Louise Daugherty reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PDK3 Louise Daugherty reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 NTRK1 Louise Daugherty commented on gene: NTRK1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 NRAS Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 NGF Louise Daugherty commented on gene: NGF: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 NEXN Louise Daugherty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 NEFL Louise Daugherty commented on gene: NEFL: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 NEBL Louise Daugherty reviewed gene: NEBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 NDRG1 Louise Daugherty commented on gene: NDRG1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 NAGLU Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYPN Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYOZ2 Louise Daugherty reviewed gene: MYOZ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYL3 Louise Daugherty reviewed gene: MYL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYL2 Louise Daugherty reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYH7 Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYH6 Louise Daugherty reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYH14 Louise Daugherty reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYBPC3 Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MTTP Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MTMR2 Louise Daugherty commented on gene: MTMR2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 MRE11 Louise Daugherty edited their review of gene: MRE11: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.63 MPZ Louise Daugherty commented on gene: MPZ: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 MORC2 Louise Daugherty commented on gene: MORC2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 MFN2 Louise Daugherty commented on gene: MFN2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 MED25 Louise Daugherty reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MARS Louise Daugherty commented on gene: MARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 MAP2K2 Louise Daugherty reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MAP2K1 Louise Daugherty reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LRSAM1 Louise Daugherty commented on gene: LRSAM1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 LMNA Louise Daugherty commented on gene: LMNA: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 LITAF Louise Daugherty commented on gene: LITAF: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 LDB3 Louise Daugherty reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LAS1L Louise Daugherty reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LAMP2 Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LAMA4 Louise Daugherty reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KRAS Louise Daugherty reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KIF1B Louise Daugherty reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KARS Louise Daugherty reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 JUP Louise Daugherty reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 JPH2 Louise Daugherty reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 IGHMBP2 Louise Daugherty commented on gene: IGHMBP2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 HSPB8 Louise Daugherty commented on gene: HSPB8: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 HSPB3 Louise Daugherty commented on gene: HSPB3: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 HSPB1 Louise Daugherty commented on gene: HSPB1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 HRAS Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 HOXD10 Louise Daugherty reviewed gene: HOXD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 HADHB Louise Daugherty reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 HADHA Louise Daugherty reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 GNB4 Louise Daugherty commented on gene: GNB4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 GJB1 Louise Daugherty commented on gene: GJB1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 GDAP1 Louise Daugherty commented on gene: GDAP1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 GATAD1 Louise Daugherty reviewed gene: GATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 GARS Louise Daugherty commented on gene: GARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 GAN Louise Daugherty commented on gene: GAN: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 GAA Louise Daugherty reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 FXN Louise Daugherty commented on gene: FXN: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 FGD4 Louise Daugherty commented on gene: FGD4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 FBXO38 Louise Daugherty commented on gene: FBXO38: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 EMD Louise Daugherty reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ELP1 Louise Daugherty commented on gene: ELP1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 EGR2 Louise Daugherty commented on gene: EGR2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 DYNC1H1 Louise Daugherty commented on gene: DYNC1H1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 DTNA Louise Daugherty reviewed gene: DTNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DST Louise Daugherty reviewed gene: DST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DSP Louise Daugherty reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DSG2 Louise Daugherty reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DSC2 Louise Daugherty reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DRP2 Louise Daugherty reviewed gene: DRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 DNM2 Louise Daugherty commented on gene: DNM2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 DNAJB2 Louise Daugherty commented on gene: DNAJB2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 DMD Louise Daugherty reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DHTKD1 Louise Daugherty reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DHH Louise Daugherty reviewed gene: DHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 DCAF8 Louise Daugherty reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CTDP1 Louise Daugherty reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CSRP3 Louise Daugherty reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CRYAB Louise Daugherty reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 COX6A1 Louise Daugherty commented on gene: COX6A1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 COQ8A Louise Daugherty edited their review of gene: COQ8A: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.63 CLTCL1 Louise Daugherty reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CHCHD10 Louise Daugherty commented on gene: CHCHD10: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 CCT5 Louise Daugherty commented on gene: CCT5: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 CAV3 Louise Daugherty reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CASQ2 Louise Daugherty reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 BRAF Louise Daugherty reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 BICD2 Louise Daugherty commented on gene: BICD2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 BAG3 Louise Daugherty reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ATP7A Louise Daugherty commented on gene: ATP7A: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 ATM Louise Daugherty commented on gene: ATM: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 ATL3 Louise Daugherty commented on gene: ATL3: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 ARHGEF10 Louise Daugherty commented on gene: ARHGEF10: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 APTX Louise Daugherty commented on gene: APTX: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 ANKRD1 Louise Daugherty reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ALDH3A2 Louise Daugherty reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 AIFM1 Louise Daugherty commented on gene: AIFM1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.63 ACTN2 Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ACTC1 Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ABCC9 Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 AARS Louise Daugherty commented on gene: AARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Fetal anomalies v0.224 SMO Rebecca Foulger commented on gene: SMO: Added 'somatic' tag alonside the 'mosaicism' tag following clinical review of SMO (April 26th 2019 with Lyn Chitty, Anna de Burca, Richard Scott and Rhiannon Mellis.
Hereditary neuropathy v1.62 SOX10 Louise Daugherty Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.224 SMO Rebecca Foulger Tag somatic tag was added to gene: SMO.
Hereditary neuropathy v1.61 TDP1 Louise Daugherty Mode of inheritance for gene: TDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.224 ASCC1 Rebecca Foulger commented on gene: ASCC1: ASCC1 was added to the panel as a Grey gene by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). ASCC1 rating was changed from Grey to Green following clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis; fetally relevant plus sufficient cases from Julia Baptista's review to support inclusion.
Fetal anomalies v0.224 MYH6 Rebecca Foulger Added comment: Comment on mode of inheritance: MYH6 had 'monoallelic' inheritance in the original PAGE list/DD-G2P for all three disorders. Changed mode of inheritance from 'monoallelic' to 'biallelic' following group expert clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis on 26th April 2019.
Fetal anomalies v0.224 MYH6 Rebecca Foulger Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.60 ZFYVE27 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ZFYVE27
Hereditary neuropathy v1.60 ZFYVE26 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ZFYVE26
Hereditary neuropathy v1.60 YARS Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate C, 608323 for gene: YARS
Publications for gene YARS were changed from to 16429158; 19561293
Hereditary neuropathy v1.60 WNK1 Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 for gene: WNK1
Publications for gene WNK1 were changed from to 15060842
Hereditary neuropathy v1.60 WASHC5 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: WASHC5
Publications for gene WASHC5 were changed from to 27164712
Hereditary neuropathy v1.60 VCL Louise Daugherty Added phenotypes Cardiomyopathy for gene: VCL
Hereditary neuropathy v1.60 TWNK Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TWNK
Hereditary neuropathy v1.60 TTPA Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TTPA
Hereditary neuropathy v1.60 TTN Louise Daugherty Added phenotypes Cardiomyopathy for gene: TTN
Hereditary neuropathy v1.60 TTBK2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TTBK2
Hereditary neuropathy v1.60 TRPV4 Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, type IIc, 606071; other disorders for gene: TRPV4
Publications for gene TRPV4 were changed from 25900305; 26392352 to 20037586
Hereditary neuropathy v1.60 TRIM2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2R, 615490 for gene: TRIM2
Publications for gene TRIM2 were changed from Charcot-Marie-Tooth disease, type 2R to 23562820; 25893792; 18687884
Hereditary neuropathy v1.60 TPM1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TPM1
Hereditary neuropathy v1.60 TNNT2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNT2
Hereditary neuropathy v1.60 TNNI3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNI3
Hereditary neuropathy v1.60 TNNC1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNC1
Hereditary neuropathy v1.60 TMEM43 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TMEM43
Hereditary neuropathy v1.60 TDP1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TDP1
Publications for gene TDP1 were changed from to 12244316
Hereditary neuropathy v1.60 TCAP Louise Daugherty Added phenotypes Cardiomyopathy for gene: TCAP
Hereditary neuropathy v1.60 TAZ Louise Daugherty Added phenotypes Cardiomyopathy for gene: TAZ
Hereditary neuropathy v1.60 SYT2 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic for gene: SYT2
Publications for gene SYT2 were changed from 25192047; 26519543 to 26519543; 30533528
Hereditary neuropathy v1.60 SPTLC2 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640; Hereditary Sensory and Autonomic Neuropathy, Type IC for gene: SPTLC2
Publications for gene SPTLC2 were changed from to 20920666
Hereditary neuropathy v1.60 SPTLC1 Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
Publications for gene SPTLC1 were changed from to 16216550; 20097765
Hereditary neuropathy v1.60 SPTBN2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPTBN2
Publications for gene SPTBN2 were changed from to 28333917
Hereditary neuropathy v1.60 SPG7 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG7
Hereditary neuropathy v1.60 SPG21 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG21
Hereditary neuropathy v1.60 SPART Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPART
Hereditary neuropathy v1.60 SOX10 Louise Daugherty Added phenotypes Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 for gene: SOX10
Publications for gene SOX10 were changed from to 21898658
Hereditary neuropathy v1.60 SOS1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: SOS1
Hereditary neuropathy v1.60 SLC5A7 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA for gene: SLC5A7
Publications for gene SLC5A7 were changed from to 29782645; 23141292
Hereditary neuropathy v1.60 SLC52A1 Louise Daugherty Added phenotypes dHMN; Riboflavin deficiency for gene: SLC52A1
Hereditary neuropathy v1.60 SLC1A3 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SLC1A3
Hereditary neuropathy v1.60 SLC12A6 Louise Daugherty Added phenotypes Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum for gene: SLC12A6
Publications for gene SLC12A6 were changed from to 12368912
Hereditary neuropathy v1.60 SIL1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SIL1
Hereditary neuropathy v1.60 SH3TC2 Louise Daugherty Added phenotypes Mononeuropathy of the median nerve, mild, 613353; Charcot Marie Tooth disease, type 4C, 601596 for gene: SH3TC2
Publications for gene SH3TC2 were changed from to 19805030
Hereditary neuropathy v1.60 SGCD Louise Daugherty Added phenotypes Cardiomyopathy for gene: SGCD
Hereditary neuropathy v1.60 SEPT9 Louise Daugherty Added phenotypes Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy for gene: SEPT9
Publications for gene SEPT9 were changed from to 16186812; 19451530
Hereditary neuropathy v1.60 SCN9A Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SCN9A
Publications for gene SCN9A were changed from to 26392352
Hereditary neuropathy v1.60 SCN5A Louise Daugherty Added phenotypes Cardiomyopathy for gene: SCN5A
Hereditary neuropathy v1.60 SBF2 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4B2, 604563 for gene: SBF2
Publications for gene SBF2 were changed from to 17855448; 12554688
Hereditary neuropathy v1.60 SBF1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
Publications for gene SBF1 were changed from to 28005197; 23749797; 21210780; 24799518
Hereditary neuropathy v1.60 RYR2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RYR2
Hereditary neuropathy v1.60 RIT1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RIT1
Hereditary neuropathy v1.60 RETREG1 Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
Publications for gene RETREG1 were changed from PMID: 26392352 to 30373780; 19838196
Hereditary neuropathy v1.60 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant 610250 for gene: REEP1
Publications for gene REEP1 were changed from to 19034539; 22703882
Hereditary neuropathy v1.60 RBM20 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RBM20
Hereditary neuropathy v1.60 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RAF1
Hereditary neuropathy v1.60 RAB7A Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
Publications for gene RAB7A were changed from to 26791407
Hereditary neuropathy v1.60 PTPN11 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PTPN11
Hereditary neuropathy v1.60 PRX Louise Daugherty Added phenotypes Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895 for gene: PRX
Publications for gene PRX were changed from to 11157804; 10848494
Hereditary neuropathy v1.60 PRPS1 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 for gene: PRPS1
Publications for gene PRPS1 were changed from to 24285972; 17701900
Hereditary neuropathy v1.60 PRKCG Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PRKCG
Publications for gene PRKCG were changed from to 26633542
Hereditary neuropathy v1.60 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PRKAG2
Hereditary neuropathy v1.60 PNPLA6 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PNPLA6
Hereditary neuropathy v1.60 PMP22 Louise Daugherty Added phenotypes Neuropathy, inflammatory demyelinating, 139393; Charcot Marie Tooth disease, type 1A, 118220; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Dejerine Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500 for gene: PMP22
Hereditary neuropathy v1.60 PLP1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PLP1
Hereditary neuropathy v1.60 PLN Louise Daugherty Added phenotypes Cardiomyopathy for gene: PLN
Hereditary neuropathy v1.60 PLEKHG5 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 for gene: PLEKHG5
Publications for gene PLEKHG5 were changed from to 23844677; 17564964
Hereditary neuropathy v1.60 PKP2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PKP2
Hereditary neuropathy v1.60 PDLIM3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PDLIM3
Hereditary neuropathy v1.60 PDK3 Louise Daugherty Added phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 for gene: PDK3
Publications for gene PDK3 were changed from PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family to 26801680; 23297365
Hereditary neuropathy v1.60 NTRK1 Louise Daugherty Added phenotypes Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis for gene: NTRK1
Publications for gene NTRK1 were changed from to 28940190
Hereditary neuropathy v1.60 NRAS Louise Daugherty Added phenotypes Cardiomyopathy for gene: NRAS
Hereditary neuropathy v1.60 NIPA1 Louise Daugherty Added phenotypes Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant for gene: NIPA1
Publications for gene NIPA1 were changed from PMID: 22302102; 21419568; 14508710; 15643603; 15711826 to 22302102; 21419568; 15643603; 15711826; 14508710
Hereditary neuropathy v1.60 NGF Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type V; Neuropathy, hereditary sensory and autonomic, type V, 608654 for gene: NGF
Publications for gene NGF were changed from to 1317267; 14976160
Hereditary neuropathy v1.60 NEXN Louise Daugherty Added phenotypes Cardiomyopathy for gene: NEXN
Hereditary neuropathy v1.60 NEFL Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 for gene: NEFL
Publications for gene NEFL were changed from to 23618875; 10841809
Hereditary neuropathy v1.60 NEBL Louise Daugherty Added phenotypes Cardiomyopathy for gene: NEBL
Hereditary neuropathy v1.60 NDRG1 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4D, 601455 for gene: NDRG1
Publications for gene NDRG1 were changed from to 28776325; 10831399
Hereditary neuropathy v1.60 NAGLU Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 for gene: NAGLU
Publications for gene NAGLU were changed from to 25818867
Hereditary neuropathy v1.60 MYPN Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYPN
Hereditary neuropathy v1.60 MYOZ2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYOZ2
Hereditary neuropathy v1.60 MYL3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYL3
Hereditary neuropathy v1.60 MYL2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYL2
Hereditary neuropathy v1.60 MYH7 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYH7
Hereditary neuropathy v1.60 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYH6
Hereditary neuropathy v1.60 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14
Publications for gene MYH14 were changed from to 21480433; 27875632; 30373780
Hereditary neuropathy v1.60 MYBPC3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYBPC3
Hereditary neuropathy v1.60 MTTP Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: MTTP
Hereditary neuropathy v1.60 MTMR2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
Publications for gene MTMR2 were changed from to 28509084; 10802647
Hereditary neuropathy v1.60 MRE11 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: MRE11
Hereditary neuropathy v1.60 MPZ Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2I, 607677; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2J, 607736; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, dominant intermediate D, 607791; Dejerine Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253 for gene: MPZ
Hereditary neuropathy v1.60 MORC2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; axonal Charcot-Marie-Tooth disease for gene: MORC2
Hereditary neuropathy v1.60 MFN2 Louise Daugherty Added phenotypes MFN2 axonal neuropathy; other; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive) for gene: MFN2
Hereditary neuropathy v1.60 MED25 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2B2, 605589 for gene: MED25
Publications for gene MED25 were changed from to 19290556
Hereditary neuropathy v1.60 MARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS
Publications for gene MARS were changed from to 23729695; 29655802
Hereditary neuropathy v1.60 MAP2K2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MAP2K2
Hereditary neuropathy v1.60 MAP2K1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MAP2K1
Hereditary neuropathy v1.60 LRSAM1 Louise Daugherty Added phenotypes Charcot Marie Toothe disease, axonal, type 2P, 614436 for gene: LRSAM1
Publications for gene LRSAM1 were changed from to 22781092; 28335037
Hereditary neuropathy v1.60 LMNA Louise Daugherty Added phenotypes Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Charcot Marie Tooth disease, type 2B1, 605588; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Emery Dreifuss muscular dystrophy 2, AD, 181350; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 3, AR, 181350; Cardiomyopathy, dilated, 1A, 115200 for gene: LMNA
Publications for gene LMNA were changed from to 11799477
Hereditary neuropathy v1.60 LITAF Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 1C, 601098 for gene: LITAF
Publications for gene LITAF were changed from to 28211240
Hereditary neuropathy v1.60 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: LDB3
Hereditary neuropathy v1.60 LAS1L Louise Daugherty Publications for gene LAS1L were changed from to 24647030
Hereditary neuropathy v1.60 LAMP2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: LAMP2
Hereditary neuropathy v1.60 LAMA4 Louise Daugherty Added phenotypes Cardiomyopathy for gene: LAMA4
Hereditary neuropathy v1.60 L1CAM Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: L1CAM
Hereditary neuropathy v1.60 KRAS Louise Daugherty Added phenotypes Cardiomyopathy for gene: KRAS
Hereditary neuropathy v1.60 KIF1B Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2A1, 118210 for gene: KIF1B
Publications for gene KIF1B were changed from PMID: 26392352 to 11389829; 25802885
Hereditary neuropathy v1.60 KCNC3 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: KCNC3
Hereditary neuropathy v1.60 KCNA1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: KCNA1
Hereditary neuropathy v1.60 KARS Louise Daugherty Added phenotypes Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot Marie Tooth disease, recessive intermediate, B, 613641 for gene: KARS
Publications for gene KARS were changed from to 23768514; 25476837; 20920668
Hereditary neuropathy v1.60 JUP Louise Daugherty Added phenotypes Cardiomyopathy for gene: JUP
Hereditary neuropathy v1.60 JPH2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: JPH2
Hereditary neuropathy v1.60 ITPR1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ITPR1
Hereditary neuropathy v1.60 IGHMBP2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 for gene: IGHMBP2
Publications for gene IGHMBP2 were changed from PMID: 26392352 to 26392352
Hereditary neuropathy v1.60 HSPB8 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
Publications for gene HSPB8 were changed from to 28780615; 23389032
Hereditary neuropathy v1.60 HSPB3 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type IIC, 613376 for gene: HSPB3
Publications for gene HSPB3 were changed from PMID: 20142617 missense variant reported in 2 siblings with an asymmetric axonal motor neuropathy. to 27549087; 20142617
Hereditary neuropathy v1.60 HSPB1 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot Marie Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
Publications for gene HSPB1 were changed from 28379183 to 15122254; 28379183
Hereditary neuropathy v1.60 HRAS Louise Daugherty Added phenotypes Cardiomyopathy for gene: HRAS
Hereditary neuropathy v1.60 HOXD10 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, foot deformity of, 192950 for gene: HOXD10
Publications for gene HOXD10 were changed from to 15146389
Hereditary neuropathy v1.60 GNB4 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate F, 615185 for gene: GNB4
Publications for gene GNB4 were changed from PMID: 23434117 - one heterozygous variant reported in affected first cousins, another variant identified in one indidvidual with CMT. to 28642160; 27908631; 23434117
Hereditary neuropathy v1.60 GJB1 Louise Daugherty Added phenotypes Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; Charcot-Marie-Tooth, X-linked for gene: GJB1
Publications for gene GJB1 were changed from to 8266101
Hereditary neuropathy v1.60 GDAP1 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4A, 214400; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot Marie Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
Publications for gene GDAP1 were changed from to 11743579; 2937239
Hereditary neuropathy v1.60 GATAD1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: GATAD1
Hereditary neuropathy v1.60 GARS Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 for gene: GARS
Publications for gene GARS were changed from to 29648643
Hereditary neuropathy v1.60 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1 for gene: GAN
Publications for gene GAN were changed from to 1106248
Hereditary neuropathy v1.60 GAA Louise Daugherty Added phenotypes Cardiomyopathy for gene: GAA
Publications for gene GAA were changed from to 24627108
Hereditary neuropathy v1.60 FXN Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FXN
Hereditary neuropathy v1.60 FKTN Louise Daugherty Added phenotypes Cardiomyopathy for gene: FKTN
Hereditary neuropathy v1.60 FIG4 Louise Daugherty Added phenotypes Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228 for gene: FIG4
Publications for gene FIG4 were changed from to 17572665
Hereditary neuropathy v1.60 FGF14 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FGF14
Hereditary neuropathy v1.60 FGD4 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4 for gene: FGD4
Publications for gene FGD4 were changed from to 17564959; 15744041
Hereditary neuropathy v1.60 FBXO38 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 for gene: FBXO38
Hereditary neuropathy v1.60 EMD Louise Daugherty Added phenotypes Cardiomyopathy for gene: EMD
Hereditary neuropathy v1.60 ELP1 Louise Daugherty Added phenotypes Dysautonomia, familial, 223900 for gene: ELP1
Publications for gene ELP1 were changed from to 26392352
Hereditary neuropathy v1.60 EGR2 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 for gene: EGR2
Publications for gene EGR2 were changed from to 9537424
Hereditary neuropathy v1.60 DYNC1H1 Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563 for gene: DYNC1H1
Publications for gene DYNC1H1 were changed from PMID: 21820100; PMID: 26392352 to 21820100; 26392352
Hereditary neuropathy v1.60 DTNA Louise Daugherty Added phenotypes Cardiomyopathy for gene: DTNA
Hereditary neuropathy v1.60 DST Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 for gene: DST
Publications for gene DST were changed from to 30371979; 28468842
Hereditary neuropathy v1.60 DSP Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSP
Hereditary neuropathy v1.60 DSG2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSG2
Hereditary neuropathy v1.60 DSC2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSC2
Hereditary neuropathy v1.60 DRP2 Louise Daugherty Publications for gene DRP2 were changed from to 29473052; 26227883
Hereditary neuropathy v1.60 DNMT1 Louise Daugherty Added phenotypes Dementia, Deafness, and Sensory Neuropathy; other; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
Publications for gene DNMT1 were changed from to 21532572
Hereditary neuropathy v1.60 DNM2 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth, Intermediate for gene: DNM2
Publications for gene DNM2 were changed from to 15731758
Hereditary neuropathy v1.60 DNAJB2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: DNAJB2
Hereditary neuropathy v1.60 DMD Louise Daugherty Added phenotypes Cardiomyopathy for gene: DMD
Hereditary neuropathy v1.60 DHTKD1 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 for gene: DHTKD1
Hereditary neuropathy v1.60 DES Louise Daugherty Added phenotypes Cardiomyopathy for gene: DES
Hereditary neuropathy v1.60 DCTN1 Louise Daugherty Added phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 for gene: DCTN1
Publications for gene DCTN1 were changed from PMID: 27025386 (2016) - Study includes the report of a 12 year old boy with distal hereditary motor neuropathy 7B (dHMN7B) in whom the DCTN1 c.1019A > G p.E340G variant was as likely pathogenic. to 28251916; 24627108; 27025386
Hereditary neuropathy v1.60 DCAF8 Louise Daugherty Added phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 for gene: DCAF8
Publications for gene DCAF8 were changed from to 24500646
Hereditary neuropathy v1.60 CTDP1 Louise Daugherty Added phenotypes Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) for gene: CTDP1
Publications for gene CTDP1 were changed from PMID: 24690360 - 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. All patients are homozygous for the c.863 + 389C>T mutation in the CTDP1 gene; PMID: 16194727 - Demonstrated the presence of the homozygous IVS6+389C>T mutation in the CTDP1 gene in a family with congenital cataracts facial dysmorphism neuropathy. PMID: 14517542 - original report of this variant in an endogamous group of Vlax Roma. to 14517542; 24690360; 16194727
Hereditary neuropathy v1.60 CSRP3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: CSRP3
Hereditary neuropathy v1.60 CRYAB Louise Daugherty Added phenotypes Cardiomyopathy for gene: CRYAB
Hereditary neuropathy v1.60 COX6A1 Louise Daugherty Added phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
Publications for gene COX6A1 were changed from to 26302975; 25152455
Hereditary neuropathy v1.60 COQ8A Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: COQ8A
Hereditary neuropathy v1.60 CLTCL1 Louise Daugherty Publications for gene CLTCL1 were changed from to 26068709
Hereditary neuropathy v1.60 CHCHD10 Louise Daugherty Added phenotypes Spinal muscular atrophy, Jokela type: 615048 for gene: CHCHD10
Publications for gene CHCHD10 were changed from to 25428574
Hereditary neuropathy v1.60 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Sensory Neuropathy with Spastic Paraplegia for gene: CCT5
Publications for gene CCT5 were changed from to 16399879
Hereditary neuropathy v1.60 CAV3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: CAV3
Hereditary neuropathy v1.60 CASQ2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: CASQ2
Hereditary neuropathy v1.60 CACNB4 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: CACNB4
Hereditary neuropathy v1.60 C12orf65 Louise Daugherty Publications for gene C12orf65 were changed from to 24198383; 28091420
Hereditary neuropathy v1.60 BSCL2 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 for gene: BSCL2
Publications for gene BSCL2 were changed from PMID: 26392352 to 26392352
Hereditary neuropathy v1.60 BRAF Louise Daugherty Added phenotypes Cardiomyopathy for gene: BRAF
Hereditary neuropathy v1.60 BICD2 Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 for gene: BICD2
Publications for gene BICD2 were changed from to 23664116
Hereditary neuropathy v1.60 BAG3 Louise Daugherty Added phenotypes Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881 for gene: BAG3
Publications for gene BAG3 were changed from PMID: 25728519 - we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12); 22734908 - we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy; PMID: 26545904 - Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. to 28754666; 22734908
Hereditary neuropathy v1.60 ATP7A Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ATP7A
Publications for gene ATP7A were changed from to 20170900
Hereditary neuropathy v1.60 ATM Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia-telangiectasia for gene: ATM
Hereditary neuropathy v1.60 ATL3 Louise Daugherty Publications for gene ATL3 were changed from Literature search 6th May 2016, 2 articles found; PMID: 24459106 c.575A>G (p.Tyr192Cys) heterozygous segregated with affected family members in a German family and Spanish family with hereditary sensory and autonomic neuropathies type 1, Haplotype analysis at the ATL3 locus of both families suggested that they share the same alleles compatible with identity by descent; PMID: 24736309 - report of a Bosnian family, in which father and son with hereditary sensory neuropathy type 1 were heterozygous for ATL3 c.1013C>G p.Pro338Arg, that was not found in unaffected son. to 24736309; 24459106
Hereditary neuropathy v1.60 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Publications for gene ATL1 were changed from to 21194679
Hereditary neuropathy v1.60 ARHGEF10 Louise Daugherty Added phenotypes ?Slowed nerve conduction velocity, AD, 608236 for gene: ARHGEF10
Publications for gene ARHGEF10 were changed from to 14508709
Hereditary neuropathy v1.60 APTX Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ATAXIA WITH OCULOMOTOR APRAXIA 1 for gene: APTX
Publications for gene APTX were changed from to 11176957
Hereditary neuropathy v1.60 ANKRD1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ANKRD1
Hereditary neuropathy v1.60 ALDH3A2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ALDH3A2
Hereditary neuropathy v1.60 AIFM1 Louise Daugherty Added phenotypes Cowchock syndrome; Combined oxidative phosphorylation deficiency 6 for gene: AIFM1
Publications for gene AIFM1 were changed from to 3856385
Hereditary neuropathy v1.60 ACTN2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ACTN2
Hereditary neuropathy v1.60 ACTC1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ACTC1
Hereditary neuropathy v1.60 ABCC9 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ABCC9
Hereditary neuropathy v1.60 AARS Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2 for gene: AARS
Publications for gene AARS were changed from PMID: 26032230, PMID: 26392352 to 20045102; 26032230, 26392352
Hereditary neuropathy v1.59 DNAJB2 Louise Daugherty Publications for gene: DNAJB2 were set to PMID: 26752306 - c.352+1G>A mutation found in two cases. Report that DNAJB2 c.352+1G>A may be a founder event; PMID: 25274842 - HSJ1 (previous symbol for DNAJB2) variants reported in a family with Charcot-Marie-Tooth disease, and another with distal hereditary motor neuropathy.
Fetal anomalies v0.223 TRIM32 Rebecca Foulger Source Expert Review Amber was added to TRIM32.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.223 TBX22 Rebecca Foulger Source Expert Review Amber was added to TBX22.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.223 SEC23B Rebecca Foulger Publications for gene SEC23B were changed from to 20381388
Fetal anomalies v0.223 GNAI1 Rebecca Foulger Source Expert Review Amber was added to GNAI1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.223 GK Rebecca Foulger Source Expert Review Red was added to GK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 PGK1 Rebecca Foulger Source Expert Review Red was added to PGK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 PGM3 Rebecca Foulger Source Expert Review Red was added to PGM3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 TUBB4A Rebecca Foulger Source Expert Review Red was added to TUBB4A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 RAB39B Rebecca Foulger Publications for gene RAB39B were changed from to 20159109; 29152164
Fetal anomalies v0.223 WRAP53 Rebecca Foulger Source Expert Review Red was added to WRAP53.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KCNJ10 Rebecca Foulger Source Expert Review Red was added to KCNJ10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 ASCC1 Rebecca Foulger Source Expert Review Green was added to ASCC1.
Rating Changed from No List (delete) to Green List (high evidence)
Fetal anomalies v0.223 KCTD7 Rebecca Foulger Source Expert Review Red was added to KCTD7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KCNQ3 Rebecca Foulger Source Expert Review Red was added to KCNQ3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KBTBD13 Rebecca Foulger Source Expert Review Red was added to KBTBD13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 POLR3B Rebecca Foulger Source Expert Review Red was added to POLR3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 FGF8 Rebecca Foulger Publications for gene FGF8 were changed from to 18596921; 20463092; 24280688
Fetal anomalies v0.223 PROKR2 Rebecca Foulger Source Expert Review Red was added to PROKR2.
Publications for gene PROKR2 were changed from to 17054399
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KISS1R Rebecca Foulger Source Expert Review Red was added to KISS1R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 PROK2 Rebecca Foulger Source Expert Review Red was added to PROK2.
Publications for gene PROK2 were changed from 30712880 to 17054399
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 RAB39B Rebecca Foulger Source Expert Review Red was added to RAB39B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 SMAD3 Rebecca Foulger Source Expert Review Red was added to SMAD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KCNQ1 Rebecca Foulger Source Expert Review Red was added to KCNQ1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 RRM2B Rebecca Foulger Source Expert Review Green was added to RRM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 MYH6 Rebecca Foulger Source Expert Review Green was added to MYH6.
Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 LDB3 Rebecca Foulger Source Expert Review Red was added to LDB3.
Publications for gene LDB3 were changed from to 17394203
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 TGFB2 Rebecca Foulger Source Expert Review Green was added to TGFB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 HSPD1 Rebecca Foulger Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 DARS2 Rebecca Foulger Source Expert Review Red was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 ATP13A2 Rebecca Foulger Source Expert Review Red was added to ATP13A2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 BGN Rebecca Foulger Source Expert Review Green was added to BGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 PLA2G6 Rebecca Foulger Source Expert Review Red was added to PLA2G6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 ALAD Rebecca Foulger Source Expert Review Red was added to ALAD.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 ABCD1 Rebecca Foulger Source Expert Review Red was added to ABCD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 SNORD118 Rebecca Foulger Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy v1.58 ZFYVE27 Natalie Forrester reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 ZFYVE26 Natalie Forrester reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 YARS Natalie Forrester reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16429158, 19561293; Phenotypes: Charcot Marie Tooth disease, dominant intermediate C, 608323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 WNK1 Natalie Forrester reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15060842; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type II, 201300, Pseudohypoaldosteronism, type IIC, 614492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 WASHC5 Natalie Forrester reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: 27164712; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 VCL Natalie Forrester reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TWNK Natalie Forrester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 TTPA Natalie Forrester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TTBK2 Natalie Forrester reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 TRPV4 Natalie Forrester reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20037586; Phenotypes: other disorders, Hereditary motor and sensory neuropathy, type IIc, 606071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 TRIM2 Natalie Forrester reviewed gene: TRIM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23562820, 18687884, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, 615490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 TPM1 Natalie Forrester reviewed gene: TPM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TNNT2 Natalie Forrester reviewed gene: TNNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.58 TNNI3 Natalie Forrester reviewed gene: TNNI3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TNNC1 Natalie Forrester reviewed gene: TNNC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TMEM43 Natalie Forrester reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TDP1 Natalie Forrester reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: ; Publications: 12244316; Phenotypes: Hereditary Neuropathies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 TCAP Natalie Forrester reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TAZ Natalie Forrester reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 SYT2 Natalie Forrester reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.58 SPTLC2 Natalie Forrester reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920666; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640 , Hereditary Sensory and Autonomic Neuropathy, Type IC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 SPTLC1 Natalie Forrester reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20097765, 16216550; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400 , Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 SPTBN2 Natalie Forrester reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: 28333917; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SPG7 Natalie Forrester reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SPG21 Natalie Forrester reviewed gene: SPG21: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SPART Natalie Forrester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SOX10 Natalie Forrester reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: 21898658; Phenotypes: PCWH syndrome, 609136, Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584, Waardenburg syndrome, type 4C, 613266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 SOS1 Natalie Forrester reviewed gene: SOS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 SLC5A7 Natalie Forrester reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 23141292, 29782645; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 SLC52A1 Natalie Forrester reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dHMN, Riboflavin deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.58 SLC1A3 Natalie Forrester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SLC12A6 Natalie Forrester reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12368912; Phenotypes: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 SIL1 Natalie Forrester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SH3TC2 Natalie Forrester reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19805030; Phenotypes: Charcot Marie Tooth disease, type 4C, 601596, Mononeuropathy of the median nerve, mild, 613353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 SGCD Natalie Forrester reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 SEPT9 Natalie Forrester reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16186812, 19451530; Phenotypes: Amyotrophy, hereditary neuralgic, Neuralgic amyotrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 SCN9A Natalie Forrester reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Hereditary Neuropathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 SCN5A Natalie Forrester reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 SBF2 Natalie Forrester reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12554688, 17855448; Phenotypes: Charcot Marie Tooth disease, type 4B2, 604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 SBF1 Natalie Forrester reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23749797, 24799518, 21210780, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3, 615284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 RYR2 Natalie Forrester reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 RIT1 Natalie Forrester reviewed gene: RIT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 RETREG1 Natalie Forrester reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30373780, 19838196; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type IIB, 613115 , Neuropathy, hereditary sensory and autonomic, type IIB, 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 REEP1 Natalie Forrester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19034539, 22703882; Phenotypes: Spastic paraplegia 31, autosomal dominant 610250, ?Neuronopathy, distal hereditary motor, type VB, 614751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 RBM20 Natalie Forrester reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 RAF1 Natalie Forrester reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 RAB7A Natalie Forrester reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26791407; Phenotypes: Charcot-Marie-Tooth disease, type 2B, 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 PTPN11 Natalie Forrester reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PRX Natalie Forrester reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11157804, 10848494; Phenotypes: Charcot Marie Tooth disease, type 4F, 614895, Dejerine Sottas disease, autosomal recessive, 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 PRPS1 Natalie Forrester reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701900, 24285972; Phenotypes: Charcot Marie Tooth disease, X linked recessive, 5, 311070; 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
Hereditary neuropathy v1.58 PRKCG Natalie Forrester reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: ; Publications: 26633542; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 PRKAG2 Natalie Forrester reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PNPLA6 Natalie Forrester reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 PMP22 Natalie Forrester reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 1A, 118220, Dejerine Sottas disease, 145900, Neuropathy, recurrent, with pressure palsies, 162500, Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800, Neuropathy, inflammatory demyelinating, 139393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 PLP1 Natalie Forrester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy v1.58 PLN Natalie Forrester reviewed gene: PLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PLEKHG5 Natalie Forrester reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23844677, 17564964; Phenotypes: Charcot Marie Tooth disease, recessive intermediate C, 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 PKP2 Natalie Forrester reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PDLIM3 Natalie Forrester reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PDK3 Natalie Forrester reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: 23297365, 26801680; Phenotypes: ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; 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
Hereditary neuropathy v1.58 NTRK1 Natalie Forrester reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28940190; Phenotypes: Hereditary Neuropathies, Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 NRAS Natalie Forrester reviewed gene: NRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 NIPA1 Natalie Forrester reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: 22302102, 21419568, 14508710, 15643603, 15711826; Phenotypes: Hereditary Neuropathies, Spastic paraplegia 6, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.58 NGF Natalie Forrester reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 1317267, 14976160; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type V , Neuropathy, hereditary sensory and autonomic, type V, 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 NEXN Natalie Forrester reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 NEFL Natalie Forrester reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10841809, 23618875; Phenotypes: Charcot Marie Tooth disease, type 2E, 607684, Charcot Marie Tooth disease, type 1F, 607734, Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 NEBL Natalie Forrester reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 NDRG1 Natalie Forrester reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28776325, 10831399 ; Phenotypes: Charcot Marie Tooth disease, type 4D, 601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 NAGLU Natalie Forrester reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 25818867; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.58 MYPN Natalie Forrester reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYOZ2 Natalie Forrester reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYL3 Natalie Forrester reviewed gene: MYL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYL2 Natalie Forrester reviewed gene: MYL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYH7 Natalie Forrester reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYH6 Natalie Forrester reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYH14 Natalie Forrester reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: ; Publications: 21480433, 27875632, 30373780; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.58 MYBPC3 Natalie Forrester reviewed gene: MYBPC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MTTP Natalie Forrester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 MTMR2 Natalie Forrester reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802647, 28509084; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, 601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 MRE11 Natalie Forrester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 MPZ Natalie Forrester reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 1B, 118200, Dejerine Sottas disease, 145900, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Roussy Levy syndrome, 180800, Charcot Marie Tooth disease, type 2I, 607677, Charcot Marie Tooth disease, dominant intermediate D, 607791; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 MORC2 Natalie Forrester reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26497905, 26659848; Phenotypes: axonal Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 MFN2 Natalie Forrester reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 2A2, 609260, Hereditary motor and sensory neuropathy VI, 601152, other, Charcot-Marie-Tooth, Type 2 (Dominant), Hereditary Motor and Sensory Neuropathy (Recessive), MFN2 axonal neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 MED25 Natalie Forrester reviewed gene: MED25: Rating: RED; Mode of pathogenicity: ; Publications: 19290556; Phenotypes: Charcot Marie Tooth disease, type 2B2, 605589 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 MARS Natalie Forrester reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23729695, 29655802; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 MAP2K2 Natalie Forrester reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MAP2K1 Natalie Forrester reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 LRSAM1 Natalie Forrester reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22781092, 28335037; Phenotypes: Charcot Marie Toothe disease, axonal, type 2P, 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 LMNA Natalie Forrester reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799477; Phenotypes: Emery Dreifuss muscular dystrophy 2, AD, 181350, Cardiomyopathy, dilated, 1A, 115200, Charcot Marie Tooth disease, type 2B1, 605588, Emery Dreifuss muscular dystrophy 3, AR, 181350, Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112, Lipodystrophy, familial partial, 2, 151660, Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670, Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 LITAF Natalie Forrester reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211240; Phenotypes: Charcot Marie Tooth disease, type 1C, 601098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 LDB3 Natalie Forrester reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 LAS1L Natalie Forrester reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: ; Publications: 24647030; 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)
Hereditary neuropathy v1.58 LAMP2 Natalie Forrester reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 LAMA4 Natalie Forrester reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 L1CAM Natalie Forrester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 KRAS Natalie Forrester reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 KIF1B Natalie Forrester reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 11389829, 25802885; Phenotypes: Charcot Marie Tooth disease, type 2A1, 118210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 KCNC3 Natalie Forrester reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 KCNA1 Natalie Forrester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 KARS Natalie Forrester reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 20920668, 25476837, 23768514 ; Phenotypes: Charcot Marie Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89, 613916, Deafness, autosomal recessive 89, 613916, Charcot-Marie-Tooth, Intermediate (Dominant); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 JUP Natalie Forrester reviewed gene: JUP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 JPH2 Natalie Forrester reviewed gene: JPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ITPR1 Natalie Forrester reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 IGHMBP2 Natalie Forrester reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2S 616155, Neuronopathy, distal hereditary motor, type VI, 604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 HSPB8 Natalie Forrester reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 28780615, 23389032; Phenotypes: Charcot Marie Tooth disease, axonal, type 2L, 608673, Neuropathy, distal hereditary motor, type IIA, 158590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 HSPB3 Natalie Forrester reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: 20142617, 27549087; Phenotypes: ?Neuronopathy, distal hereditary motor, type IIC, 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 HSPB1 Natalie Forrester reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28379183, 15122254; Phenotypes: Charcot Marie Tooth disease, axonal, type 2F, 606595, Neuropathy, distal hereditary motor, type IIB, 608634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 HRAS Natalie Forrester reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 HOXD10 Natalie Forrester reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: ; Publications: 15146389; Phenotypes: Charcot Marie Tooth disease, foot deformity of, 192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 HADHB Natalie Forrester reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.58 HADHA Natalie Forrester reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.58 GNB4 Natalie Forrester reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23434117, 27908631, 28642160; Phenotypes: Charcot Marie Tooth disease, dominant intermediate F, 615185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 GJB1 Natalie Forrester reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8266101; Phenotypes: Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 , Charcot-Marie-Tooth, X-linked; 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
Hereditary neuropathy v1.58 GDAP1 Natalie Forrester reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11743579, 2937239; Phenotypes: Charcot-Marie-Tooth with Vocal Cord Paresis (recessive), Charcot-Marie-Tooth, Intermediate (Dominant), Charcot Marie Tooth disease, type 4A, 214400, Charcot Marie Tooth disease, type 4A, 214400, Charcot Marie Tooth disease, axonal, type 2K, 607831, Charcot Marie Tooth disease, recessive intermediate, A, 608340; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 GATAD1 Natalie Forrester reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 GARS Natalie Forrester reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29648643; Phenotypes: Charcot Marie Tooth disease, type 2D, 601472, Neuropathy, distal hereditary motor, type V, 600794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 GAN Natalie Forrester reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 1106248; Phenotypes: Giant axonal neuropathy-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 GAA Natalie Forrester reviewed gene: GAA: Rating: RED; Mode of pathogenicity: ; Publications: 24627108; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.58 FXN Natalie Forrester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 FKTN Natalie Forrester reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 FIG4 Natalie Forrester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665; Phenotypes: Charcot Marie Tooth disease, type 4J, 611228, Amyotrophic lateral sclerosis 11, 612577, Yunis Varon syndrome, 216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 FGF14 Natalie Forrester reviewed gene: FGF14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 FGD4 Natalie Forrester reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15744041, 17564959; Phenotypes: Charcot-Marie-Tooth, Type 4 , Charcot Marie Tooth disease, type 4H, 609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 FBXO38 Natalie Forrester reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: ; Publications: 24207122; Phenotypes: Neuronopathy, distal hereditary motor, type IID, 615575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 EMD Natalie Forrester reviewed gene: EMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ELP1 Natalie Forrester reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Dysautonomia, familial, 223900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 EGR2 Natalie Forrester reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9537424; Phenotypes: Charcot-Marie-Tooth, Type 1 , Charcot Marie Tooth disease, type 1D, 607678; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 DYNC1H1 Natalie Forrester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820100, 26392352; Phenotypes: Charcot Marie Tooth disease, axonal, type 20, 614228, Mental retardation, autosomal dominant 13, 614563, Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 DTNA Natalie Forrester reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DST Natalie Forrester reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, 614653, others, Hereditary Sensory and Autonomic Neuropathy, Type VI, ?Neuropathy, hereditary sensory and autonomic, type VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 DSP Natalie Forrester reviewed gene: DSP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DSG2 Natalie Forrester reviewed gene: DSG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DSC2 Natalie Forrester reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DRP2 Natalie Forrester reviewed gene: DRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29473052, 26227883; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy v1.58 DNMT1 Natalie Forrester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21532572; Phenotypes: Neuropathy, hereditary sensory, type IE, 614116, other, Neuropathy, hereditary sensory, type IE, 614116 , Dementia, Deafness, and Sensory Neuropathy ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 DNM2 Natalie Forrester reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15731758; Phenotypes: Charcot-Marie-Tooth, Intermediate , Charcot Marie Tooth disease, dominant intermediate B, 606482, Charcot Marie Tooth disease, axonal, type 2M, 606482, Myopathy, centronuclear, 160150, Lethal congenital contracture syndrome 5, 615368; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 DNAJB2 Natalie Forrester reviewed gene: DNAJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26752306 , 25274842; Phenotypes: Hereditary Neuropathies; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.58 DMD Natalie Forrester reviewed gene: DMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DHTKD1 Natalie Forrester reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, axonal, type 2Q, 615025, 2 aminoadipic 2 oxoadipic aciduria, 204750; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.58 DHH Natalie Forrester reviewed gene: DHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.58 DES Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DCTN1 Natalie Forrester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27025386, 28251916, 24627108; Phenotypes: Neuropathy, distal hereditary motor, type VIIB 607641, Perry syndrome 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 DCAF8 Natalie Forrester reviewed gene: DCAF8: Rating: RED; Mode of pathogenicity: ; Publications: 24500646; Phenotypes: ?Giant axonal neuropathy 2, autosomal dominant, 610100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.58 CTDP1 Natalie Forrester reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24690360, 16194727, 14517542; Phenotypes: Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 CSRP3 Natalie Forrester reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 CRYAB Natalie Forrester reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 COX6A1 Natalie Forrester reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152455, 26302975; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 COQ8A Natalie Forrester reviewed gene: COQ8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 CLTCL1 Natalie Forrester reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: 26068709; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.58 CHCHD10 Natalie Forrester reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 25428574; Phenotypes: Spinal muscular atrophy, Jokela type: 615048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.58 CCT5 Natalie Forrester reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: 16399879; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, 256840, Sensory Neuropathy with Spastic Paraplegia , Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 CAV3 Natalie Forrester reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 CASQ2 Natalie Forrester reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 CACNB4 Natalie Forrester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 C12orf65 Natalie Forrester reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28091420, 24198383; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.58 BSCL2 Natalie Forrester reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Neuropathy, distal hereditary motor, type VA 600794, Silver spastic paraplegia syndrome 270685, Lipodystrophy, congenital generalized, type 2 269700, Encephalopathy, progressive, with or without lipodystrophy, 615924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 BRAF Natalie Forrester reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 BICD2 Natalie Forrester reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23664116; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 BAG3 Natalie Forrester reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: 28754666, 22734908; Phenotypes: Cardiomyopathy, dilated, 1HH, 613881, Myopathy, myofibrillar, 6 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 ATP7A Natalie Forrester reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170900; Phenotypes: Hereditary Neuropathies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary neuropathy v1.58 ATM Natalie Forrester reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies, Ataxia-telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.58 ATL3 Natalie Forrester reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24459106, 24736309; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.58 ATL1 Natalie Forrester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194679; Phenotypes: Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.58 ARHGEF10 Natalie Forrester reviewed gene: ARHGEF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14508709; Phenotypes: ?Slowed nerve conduction velocity, AD, 608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 APTX Natalie Forrester reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: 11176957; Phenotypes: Hereditary Neuropathies, ATAXIA WITH OCULOMOTOR APRAXIA 1, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.58 ANKRD1 Natalie Forrester reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ALDH3A2 Natalie Forrester reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 AIFM1 Natalie Forrester reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 3856385; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy v1.58 ACTN2 Natalie Forrester reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ACTC1 Natalie Forrester reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ABCC9 Natalie Forrester reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 AARS Natalie Forrester reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26032230, 26392352, 20045102; Phenotypes: Charcot-Marie-Tooth, Type 2 , Charcot Marie Tooth disease, axonal, type 2N, 613287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.222 TRIM32 Rebecca Foulger commented on gene: TRIM32: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber.
Fetal anomalies v0.222 TBX22 Rebecca Foulger commented on gene: TBX22: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Amber for Abruzzo-Erickson syndrome (MIM: 302905) due to the limited evidence. The clefting phenotype has sufficient cases but is isolated cleft palate so unlikely to be seen prenatally (confirmed by Lyn Chitty, 26th April 2019). Therefore demote from Green to Amber.
Fetal anomalies v0.222 SEC23B Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: No hydrops case in PAGE study for SEC23B, but 2 unrelated cases published in PMID:20381388.; Changed publications: 20381388
Fetal anomalies v0.222 HCCS Rebecca Foulger edited their review of gene: HCCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various fetal phenotypes on OMIM e.g. Ventricular septal defect (VSD) and diaphragmatic hernia.; Changed rating: GREEN
Fetal anomalies v0.222 GNAI1 Rebecca Foulger commented on gene: GNAI1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber due to limited evidence (unpublished, Decipher only).
Fetal anomalies v0.222 GK Rebecca Foulger edited their review of gene: GK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Neonatal phenotypes. Action taken: Demoted GK gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 DKC1 Rebecca Foulger edited their review of gene: DKC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 ERCC1 Rebecca Foulger edited their review of gene: ERCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: IUGR amongst the phenotypes.; Changed rating: GREEN
Fetal anomalies v0.222 PNKP Rebecca Foulger edited their review of gene: PNKP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 PGK1 Rebecca Foulger edited their review of gene: PGK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PGK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 TGFBR1 Rebecca Foulger edited their review of gene: TGFBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 TGFB3 Rebecca Foulger edited their review of gene: TGFB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 TGFBR2 Rebecca Foulger edited their review of gene: TGFBR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 PGM3 Rebecca Foulger edited their review of gene: PGM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 PGM3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 TUBB4A Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 TUBB4A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 SMO Rebecca Foulger edited their review of gene: SMO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Somatic mosaic.; Changed rating: GREEN
Fetal anomalies v0.222 SLC2A10 Rebecca Foulger edited their review of gene: SLC2A10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 SLC39A8 Rebecca Foulger edited their review of gene: SLC39A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 RAB39B Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 on panel because of incidental finding issue with Parkinsons. Two papers in which macrocephaly is mentioned: PMID:20159109 dont specify age of onset, and in PMID:29152164 macrocephaly was detected in early childhood. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed publications: 20159109, 29152164
Fetal anomalies v0.222 ZFP57 Rebecca Foulger edited their review of gene: ZFP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Intrauterine growth retardation leading to tiny babies.; Changed rating: GREEN
Fetal anomalies v0.222 WRAP53 Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 WRAP53 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 KCNJ10 Rebecca Foulger edited their review of gene: KCNJ10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Digenic, and insufficient features that would be detected prenatally. Action taken: Demoted KCNJ10 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 IGF1R Rebecca Foulger edited their review of gene: IGF1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 IGF1 Rebecca Foulger edited their review of gene: IGF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR.; Changed rating: GREEN
Fetal anomalies v0.222 IGHMBP2 Rebecca Foulger edited their review of gene: IGHMBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR, reduced fetal movements and foot deformities.; Changed rating: GREEN
Fetal anomalies v0.222 ERCC5 Rebecca Foulger edited their review of gene: ERCC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 COL1A1 Rebecca Foulger commented on gene: COL1A1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.222 GBA2 Rebecca Foulger edited their review of gene: GBA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 PPIB Rebecca Foulger edited their review of gene: PPIB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 GLB1 Rebecca Foulger edited their review of gene: GLB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 ADNP Rebecca Foulger edited their review of gene: ADNP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 COL6A2 Rebecca Foulger edited their review of gene: COL6A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Both conditions have features that would present. Keep Mode of inhertiance as both monoallelic and biallelic.; Changed rating: GREEN
Fetal anomalies v0.222 ASCC1 Rebecca Foulger reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.222 CENPJ Rebecca Foulger edited their review of gene: CENPJ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 CDT1 Rebecca Foulger edited their review of gene: CDT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 CDON Rebecca Foulger edited their review of gene: CDON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Holoprosencephaly phenotype and CDON is Green on the 'Holoprosencephaly' V1.11 PanelApp panel.; Changed rating: GREEN
Fetal anomalies v0.222 LRP4 Rebecca Foulger edited their review of gene: LRP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 KCTD7 Rebecca Foulger edited their review of gene: KCTD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Thin corpus collosum in one family. Action taken: Demoted KCTD7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 KCNQ3 Rebecca Foulger edited their review of gene: KCNQ3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 relevant structural features. Seizures postnatally. Action taken: Demoted KCNQ3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 KBTBD13 Rebecca Foulger edited their review of gene: KBTBD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 KBTBD13 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 POLR3B Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Clinical features include natal teeth and thin corpus callosum (insufficient for inclusion on panel). Neurological features are variable. Action taken: Demoted POLR3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 POLR3A Rebecca Foulger commented on gene: POLR3A: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly).
Fetal anomalies v0.222 FGFR1 Rebecca Foulger commented on gene: FGFR1: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of Pfeiffer syndrome (MIM:101600).
Fetal anomalies v0.222 CHD7 Rebecca Foulger commented on gene: CHD7: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of CHARGE syndrome (MIM:214800).
Fetal anomalies v0.222 FGF8 Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Structural features from birth. PMID:20463092 report 2 families; 1 affected indiv also had cleft lip and palate. PMID:24280688 report a singleton with micropenis, cleft lip and palate, craniofacial anomalies and ventricular septal defect (VSD) at birth. PMID:18596921 report 6 families with missense variants; one also had variant in FGFR1; in one family 2 sibs had cleft lip/palate but reduced penetrance. Overall include on Fetal panel based on cleft lip/palate phenotype. ; Changed publications: 20463092, 24280688, 18596921
Fetal anomalies v0.222 ANOS1 Rebecca Foulger edited their review of gene: ANOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include on basis of renal agenesis.; Changed rating: GREEN
Fetal anomalies v0.222 PROKR2 Rebecca Foulger edited their review of gene: PROKR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: PMID:17054399 comments that PROKR2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROKR2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399
Fetal anomalies v0.222 KISS1R Rebecca Foulger edited their review of gene: KISS1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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 mention of structural features in OMIM. Action taken: Demoted KISS1R gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 PROK2 Rebecca Foulger edited their review of gene: PROK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: PMID:17054399 comments that PROK2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROK2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399
Fetal anomalies v0.222 ASAH1 Rebecca Foulger edited their review of gene: ASAH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can (rarely) cause arthrogryposis.; Changed rating: GREEN
Fetal anomalies v0.222 RAB39B Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Risk of incidental findings. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 SMAD3 Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Clefting phenotype is fetally-relevant, but exclude based on risk of incidental findings. Action taken: Demoted SMAD3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 PTEN Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although caution was taken when considering PTEN for the Fetal anomalies panel because of the cancer association (and therefore a potential incidental finding), macrocephaly presents at birth and PTEN is Green on the Hydrocephalus panel. Therefore after group review, it was decided to include PTEN on the Fetal anomalies panel.; Changed rating: GREEN
Fetal anomalies v0.222 KCNQ1 Rebecca Foulger edited their review of gene: KCNQ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. 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: Risk of incidental findings. Action taken: Demoted KCNQ1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 RRM2B Rebecca Foulger edited their review of gene: RRM2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Presents early in life, so may potentially be diagnosed fetally.; Changed rating: GREEN
Fetal anomalies v0.222 MYH6 Rebecca Foulger edited their review of gene: MYH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include MYH6 on the panel with BIALLELIC inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.222 LDB3 Rebecca Foulger edited their review of gene: LDB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Concluded that myopathy is unlikely to produce Fetal hydrops in this instance. Although PMID:17394203 report a proband with variants in both TAZ and LDB3, where the mother had five miscarriages (plus two sons who died in infancy and 2 surviving children) the LDB3 variant is paternally-inherited, and therefore the maternally-inherited TAZ allele is more relevant. Action taken: Demoted LDB3 gene rating from Amber to Red.; Changed rating: RED; Changed publications: 17394203
Fetal anomalies v0.222 TGFB2 Rebecca Foulger edited their review of gene: TGFB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 HSPD1 Rebecca Foulger edited their review of gene: HSPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 DARS2 Rebecca Foulger edited their review of gene: DARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Slowly progressive and manifests later. Action taken: Demoted DARS2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 ATP13A2 Rebecca Foulger edited their review of gene: ATP13A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP13A2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 BGN Rebecca Foulger edited their review of gene: BGN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Review of BGN as Amber by Anna was before group review of the panel began. Following group review, it was decided that BGN should be included for the skeletal phenotype (Spondyloepimetaphyseal dysplasia) with X-linked RECESSIVE inheritance.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.222 PLA2G6 Rebecca Foulger edited their review of gene: PLA2G6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLA2G6 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 ALAD Rebecca Foulger edited their review of gene: ALAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotype, and no structural phenotype to detect prenatally. Action taken: Demoted ALAD gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 ABCD1 Rebecca Foulger edited their review of gene: ABCD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset and progressive- Nothing would be picked up fetally. Action taken: Demoted ABCD1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 FMR1 Rebecca Foulger edited their review of gene: FMR1: Changed rating: RED
Fetal anomalies v0.222 SNORD118 Rebecca Foulger edited their review of gene: SNORD118: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.221 FMR1 Rebecca Foulger Classified gene: FMR1 as Red List (low evidence)
Fetal anomalies v0.221 FMR1 Rebecca Foulger Gene: fmr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.220 FMR1 Rebecca Foulger commented on gene: FMR1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FMR1 gene rating from Amber to Red.
Hereditary neuropathy v1.57 ZFYVE27 Louise Daugherty Source NHS GMS was added to ZFYVE27.
Hereditary neuropathy v1.57 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Hereditary neuropathy v1.57 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Hereditary neuropathy v1.57 VCL Louise Daugherty Source NHS GMS was added to VCL.
Hereditary neuropathy v1.57 TWNK Louise Daugherty Source NHS GMS was added to TWNK.
Hereditary neuropathy v1.57 TTPA Louise Daugherty Source NHS GMS was added to TTPA.
Hereditary neuropathy v1.57 TTN Louise Daugherty Source NHS GMS was added to TTN.
Hereditary neuropathy v1.57 TTBK2 Louise Daugherty Source NHS GMS was added to TTBK2.
Hereditary neuropathy v1.57 TPM1 Louise Daugherty Source NHS GMS was added to TPM1.
Hereditary neuropathy v1.57 TNNT2 Louise Daugherty Source NHS GMS was added to TNNT2.
Hereditary neuropathy v1.57 TNNI3 Louise Daugherty Source NHS GMS was added to TNNI3.
Hereditary neuropathy v1.57 TNNC1 Louise Daugherty Source NHS GMS was added to TNNC1.
Hereditary neuropathy v1.57 TMEM43 Louise Daugherty Source NHS GMS was added to TMEM43.
Hereditary neuropathy v1.57 TDP1 Louise Daugherty Source NHS GMS was added to TDP1.
Hereditary neuropathy v1.57 TCAP Louise Daugherty Source NHS GMS was added to TCAP.
Hereditary neuropathy v1.57 TAZ Louise Daugherty Source NHS GMS was added to TAZ.
Hereditary neuropathy v1.57 SPTBN2 Louise Daugherty Source NHS GMS was added to SPTBN2.
Hereditary neuropathy v1.57 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Hereditary neuropathy v1.57 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Hereditary neuropathy v1.57 SPART Louise Daugherty Source NHS GMS was added to SPART.
Hereditary neuropathy v1.57 SOX10 Louise Daugherty Source NHS GMS was added to SOX10.
Hereditary neuropathy v1.57 SOS1 Louise Daugherty Source NHS GMS was added to SOS1.
Hereditary neuropathy v1.57 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Hereditary neuropathy v1.57 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Hereditary neuropathy v1.57 SGCD Louise Daugherty Source NHS GMS was added to SGCD.
Hereditary neuropathy v1.57 SCN5A Louise Daugherty Source NHS GMS was added to SCN5A.
Hereditary neuropathy v1.57 RYR2 Louise Daugherty Source NHS GMS was added to RYR2.
Hereditary neuropathy v1.57 RIT1 Louise Daugherty Source NHS GMS was added to RIT1.
Hereditary neuropathy v1.57 RBM20 Louise Daugherty Source NHS GMS was added to RBM20.
Hereditary neuropathy v1.57 RAF1 Louise Daugherty Source NHS GMS was added to RAF1.
Hereditary neuropathy v1.57 PTPN11 Louise Daugherty Source NHS GMS was added to PTPN11.
Hereditary neuropathy v1.57 PRKCG Louise Daugherty Source NHS GMS was added to PRKCG.
Hereditary neuropathy v1.57 PRKAG2 Louise Daugherty Source NHS GMS was added to PRKAG2.
Hereditary neuropathy v1.57 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Hereditary neuropathy v1.57 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Hereditary neuropathy v1.57 PLN Louise Daugherty Source NHS GMS was added to PLN.
Hereditary neuropathy v1.57 PKP2 Louise Daugherty Source NHS GMS was added to PKP2.
Hereditary neuropathy v1.57 PDLIM3 Louise Daugherty Source NHS GMS was added to PDLIM3.
Hereditary neuropathy v1.57 PDK3 Louise Daugherty Source NHS GMS was added to PDK3.
Hereditary neuropathy v1.57 NRAS Louise Daugherty Source NHS GMS was added to NRAS.
Hereditary neuropathy v1.57 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Hereditary neuropathy v1.57 NEXN Louise Daugherty Source NHS GMS was added to NEXN.
Hereditary neuropathy v1.57 NEBL Louise Daugherty Source NHS GMS was added to NEBL.
Hereditary neuropathy v1.57 NAGLU Louise Daugherty Source NHS GMS was added to NAGLU.
Hereditary neuropathy v1.57 MYPN Louise Daugherty Source NHS GMS was added to MYPN.
Hereditary neuropathy v1.57 MYOZ2 Louise Daugherty Source NHS GMS was added to MYOZ2.
Hereditary neuropathy v1.57 MYL3 Louise Daugherty Source NHS GMS was added to MYL3.
Hereditary neuropathy v1.57 MYL2 Louise Daugherty Source NHS GMS was added to MYL2.
Hereditary neuropathy v1.57 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Hereditary neuropathy v1.57 MYH6 Louise Daugherty Source NHS GMS was added to MYH6.
Hereditary neuropathy v1.57 MYH14 Louise Daugherty Source NHS GMS was added to MYH14.
Hereditary neuropathy v1.57 MYBPC3 Louise Daugherty Source NHS GMS was added to MYBPC3.
Hereditary neuropathy v1.57 MTTP Louise Daugherty Source NHS GMS was added to MTTP.
Hereditary neuropathy v1.57 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Hereditary neuropathy v1.57 MED25 Louise Daugherty Source NHS GMS was added to MED25.
Hereditary neuropathy v1.57 MAP2K2 Louise Daugherty Source NHS GMS was added to MAP2K2.
Hereditary neuropathy v1.57 MAP2K1 Louise Daugherty Source NHS GMS was added to MAP2K1.
Hereditary neuropathy v1.57 LDB3 Louise Daugherty Source NHS GMS was added to LDB3.
Hereditary neuropathy v1.57 LAS1L Louise Daugherty Source NHS GMS was added to LAS1L.
Hereditary neuropathy v1.57 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Hereditary neuropathy v1.57 LAMA4 Louise Daugherty Source NHS GMS was added to LAMA4.
Hereditary neuropathy v1.57 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Hereditary neuropathy v1.57 KRAS Louise Daugherty Source NHS GMS was added to KRAS.
Hereditary neuropathy v1.57 KIF1B Louise Daugherty Source NHS GMS was added to KIF1B.
Hereditary neuropathy v1.57 KCNC3 Louise Daugherty Source NHS GMS was added to KCNC3.
Hereditary neuropathy v1.57 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Hereditary neuropathy v1.57 KARS Louise Daugherty Source NHS GMS was added to KARS.
Hereditary neuropathy v1.57 JUP Louise Daugherty Source NHS GMS was added to JUP.
Hereditary neuropathy v1.57 JPH2 Louise Daugherty Source NHS GMS was added to JPH2.
Hereditary neuropathy v1.57 ITPR1 Louise Daugherty Source NHS GMS was added to ITPR1.
Hereditary neuropathy v1.57 HRAS Louise Daugherty Source NHS GMS was added to HRAS.
Hereditary neuropathy v1.57 HOXD10 Louise Daugherty Source NHS GMS was added to HOXD10.
Hereditary neuropathy v1.57 HADHB Louise Daugherty Source NHS GMS was added to HADHB.
Hereditary neuropathy v1.57 HADHA Louise Daugherty Source NHS GMS was added to HADHA.
Hereditary neuropathy v1.57 GATAD1 Louise Daugherty Source NHS GMS was added to GATAD1.
Hereditary neuropathy v1.57 GAA Louise Daugherty Source NHS GMS was added to GAA.
Hereditary neuropathy v1.57 FKTN Louise Daugherty Source NHS GMS was added to FKTN.
Hereditary neuropathy v1.57 FGF14 Louise Daugherty Source NHS GMS was added to FGF14.
Hereditary neuropathy v1.57 EMD Louise Daugherty Source NHS GMS was added to EMD.
Hereditary neuropathy v1.57 DTNA Louise Daugherty Source NHS GMS was added to DTNA.
Hereditary neuropathy v1.57 DST Louise Daugherty Source NHS GMS was added to DST.
Hereditary neuropathy v1.57 DSP Louise Daugherty Source NHS GMS was added to DSP.
Hereditary neuropathy v1.57 DSG2 Louise Daugherty Source NHS GMS was added to DSG2.
Hereditary neuropathy v1.57 DSC2 Louise Daugherty Source NHS GMS was added to DSC2.
Hereditary neuropathy v1.57 DRP2 Louise Daugherty Source NHS GMS was added to DRP2.
Hereditary neuropathy v1.57 DMD Louise Daugherty Source NHS GMS was added to DMD.
Hereditary neuropathy v1.57 DHTKD1 Louise Daugherty Source NHS GMS was added to DHTKD1.
Hereditary neuropathy v1.57 DHH Louise Daugherty Source NHS GMS was added to DHH.
Hereditary neuropathy v1.57 DES Louise Daugherty Source NHS GMS was added to DES.
Hereditary neuropathy v1.57 DCAF8 Louise Daugherty Source NHS GMS was added to DCAF8.
Hereditary neuropathy v1.57 CTDP1 Louise Daugherty Source NHS GMS was added to CTDP1.
Hereditary neuropathy v1.57 CSRP3 Louise Daugherty Source NHS GMS was added to CSRP3.
Hereditary neuropathy v1.57 CRYAB Louise Daugherty Source NHS GMS was added to CRYAB.
Hereditary neuropathy v1.57 COQ8A Louise Daugherty Source NHS GMS was added to COQ8A.
Hereditary neuropathy v1.57 CLTCL1 Louise Daugherty Source NHS GMS was added to CLTCL1.
Hereditary neuropathy v1.57 CAV3 Louise Daugherty Source NHS GMS was added to CAV3.
Hereditary neuropathy v1.57 CASQ2 Louise Daugherty Source NHS GMS was added to CASQ2.
Hereditary neuropathy v1.57 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Hereditary neuropathy v1.57 BRAF Louise Daugherty Source NHS GMS was added to BRAF.
Hereditary neuropathy v1.57 BAG3 Louise Daugherty Source NHS GMS was added to BAG3.
Hereditary neuropathy v1.57 ANKRD1 Louise Daugherty Source NHS GMS was added to ANKRD1.
Hereditary neuropathy v1.57 ALDH3A2 Louise Daugherty Source NHS GMS was added to ALDH3A2.
Hereditary neuropathy v1.57 ACTN2 Louise Daugherty Source NHS GMS was added to ACTN2.
Hereditary neuropathy v1.57 ACTC1 Louise Daugherty Source NHS GMS was added to ACTC1.
Hereditary neuropathy v1.57 ABCC9 Louise Daugherty Source NHS GMS was added to ABCC9.
Hereditary neuropathy v1.56 ZFYVE27 Louise Daugherty Source South West GLH was added to ZFYVE27.
Hereditary neuropathy v1.56 ZFYVE26 Louise Daugherty Source South West GLH was added to ZFYVE26.
Hereditary neuropathy v1.56 YARS Louise Daugherty Source South West GLH was added to YARS.
Hereditary neuropathy v1.56 WNK1 Louise Daugherty Source South West GLH was added to WNK1.
Hereditary neuropathy v1.56 WASHC5 Louise Daugherty Source South West GLH was added to WASHC5.
Hereditary neuropathy v1.56 VCL Louise Daugherty Source South West GLH was added to VCL.
Hereditary neuropathy v1.56 TWNK Louise Daugherty Source South West GLH was added to TWNK.
Hereditary neuropathy v1.56 TTPA Louise Daugherty Source South West GLH was added to TTPA.
Hereditary neuropathy v1.56 TTN Louise Daugherty Source South West GLH was added to TTN.
Hereditary neuropathy v1.56 TTBK2 Louise Daugherty Source South West GLH was added to TTBK2.
Hereditary neuropathy v1.56 TRPV4 Louise Daugherty Source South West GLH was added to TRPV4.
Hereditary neuropathy v1.56 TRIM2 Louise Daugherty Source South West GLH was added to TRIM2.
Hereditary neuropathy v1.56 TPM1 Louise Daugherty Source South West GLH was added to TPM1.
Hereditary neuropathy v1.56 TNNT2 Louise Daugherty Source South West GLH was added to TNNT2.
Hereditary neuropathy v1.56 TNNI3 Louise Daugherty Source South West GLH was added to TNNI3.
Hereditary neuropathy v1.56 TNNC1 Louise Daugherty Source South West GLH was added to TNNC1.
Hereditary neuropathy v1.56 TMEM43 Louise Daugherty Source South West GLH was added to TMEM43.
Hereditary neuropathy v1.56 TDP1 Louise Daugherty Source South West GLH was added to TDP1.
Hereditary neuropathy v1.56 TCAP Louise Daugherty Source South West GLH was added to TCAP.
Hereditary neuropathy v1.56 TAZ Louise Daugherty Source South West GLH was added to TAZ.
Hereditary neuropathy v1.56 SYT2 Louise Daugherty Source South West GLH was added to SYT2.
Hereditary neuropathy v1.56 SPTLC2 Louise Daugherty Source South West GLH was added to SPTLC2.
Hereditary neuropathy v1.56 SPTLC1 Louise Daugherty Source South West GLH was added to SPTLC1.
Hereditary neuropathy v1.56 SPTBN2 Louise Daugherty Source South West GLH was added to SPTBN2.
Hereditary neuropathy v1.56 SPG7 Louise Daugherty Source South West GLH was added to SPG7.
Hereditary neuropathy v1.56 SPG21 Louise Daugherty Source South West GLH was added to SPG21.
Hereditary neuropathy v1.56 SPART Louise Daugherty Source South West GLH was added to SPART.
Hereditary neuropathy v1.56 SOX10 Louise Daugherty Source South West GLH was added to SOX10.
Hereditary neuropathy v1.56 SOS1 Louise Daugherty Source South West GLH was added to SOS1.
Hereditary neuropathy v1.56 SLC5A7 Louise Daugherty Source South West GLH was added to SLC5A7.
Hereditary neuropathy v1.56 SLC52A1 Louise Daugherty Source South West GLH was added to SLC52A1.
Hereditary neuropathy v1.56 SLC1A3 Louise Daugherty Source South West GLH was added to SLC1A3.
Hereditary neuropathy v1.56 SLC12A6 Louise Daugherty Source South West GLH was added to SLC12A6.
Hereditary neuropathy v1.56 SIL1 Louise Daugherty Source South West GLH was added to SIL1.
Hereditary neuropathy v1.56 SH3TC2 Louise Daugherty Source South West GLH was added to SH3TC2.
Hereditary neuropathy v1.56 SGCD Louise Daugherty Source South West GLH was added to SGCD.
Hereditary neuropathy v1.56 SEPT9 Louise Daugherty Source South West GLH was added to SEPT9.
Hereditary neuropathy v1.56 SCN9A Louise Daugherty Source South West GLH was added to SCN9A.
Hereditary neuropathy v1.56 SCN5A Louise Daugherty Source South West GLH was added to SCN5A.
Hereditary neuropathy v1.56 SBF2 Louise Daugherty Source South West GLH was added to SBF2.
Hereditary neuropathy v1.56 SBF1 Louise Daugherty Source South West GLH was added to SBF1.
Hereditary neuropathy v1.56 RYR2 Louise Daugherty Source South West GLH was added to RYR2.
Hereditary neuropathy v1.56 RIT1 Louise Daugherty Source South West GLH was added to RIT1.
Hereditary neuropathy v1.56 RETREG1 Louise Daugherty Source South West GLH was added to RETREG1.
Hereditary neuropathy v1.56 REEP1 Louise Daugherty Source South West GLH was added to REEP1.
Hereditary neuropathy v1.56 RBM20 Louise Daugherty Source South West GLH was added to RBM20.
Hereditary neuropathy v1.56 RAF1 Louise Daugherty Source South West GLH was added to RAF1.
Hereditary neuropathy v1.56 RAB7A Louise Daugherty Source South West GLH was added to RAB7A.
Hereditary neuropathy v1.56 PTPN11 Louise Daugherty Source South West GLH was added to PTPN11.
Hereditary neuropathy v1.56 PRX Louise Daugherty Source South West GLH was added to PRX.
Hereditary neuropathy v1.56 PRPS1 Louise Daugherty Source South West GLH was added to PRPS1.
Hereditary neuropathy v1.56 PRKCG Louise Daugherty Source South West GLH was added to PRKCG.
Hereditary neuropathy v1.56 PRKAG2 Louise Daugherty Source South West GLH was added to PRKAG2.
Hereditary neuropathy v1.56 PNPLA6 Louise Daugherty Source South West GLH was added to PNPLA6.
Hereditary neuropathy v1.56 PMP22 Louise Daugherty Source South West GLH was added to PMP22.
Hereditary neuropathy v1.56 PLP1 Louise Daugherty Source South West GLH was added to PLP1.
Hereditary neuropathy v1.56 PLN Louise Daugherty Source South West GLH was added to PLN.
Hereditary neuropathy v1.56 PLEKHG5 Louise Daugherty Source South West GLH was added to PLEKHG5.
Hereditary neuropathy v1.56 PKP2 Louise Daugherty Source South West GLH was added to PKP2.
Hereditary neuropathy v1.56 PDLIM3 Louise Daugherty Source South West GLH was added to PDLIM3.
Hereditary neuropathy v1.56 PDK3 Louise Daugherty Source South West GLH was added to PDK3.
Hereditary neuropathy v1.56 NTRK1 Louise Daugherty Source South West GLH was added to NTRK1.
Hereditary neuropathy v1.56 NRAS Louise Daugherty Source South West GLH was added to NRAS.
Hereditary neuropathy v1.56 NIPA1 Louise Daugherty Source South West GLH was added to NIPA1.
Hereditary neuropathy v1.56 NGF Louise Daugherty Source South West GLH was added to NGF.
Hereditary neuropathy v1.56 NEXN Louise Daugherty Source South West GLH was added to NEXN.
Hereditary neuropathy v1.56 NEFL Louise Daugherty Source South West GLH was added to NEFL.
Hereditary neuropathy v1.56 NEBL Louise Daugherty Source South West GLH was added to NEBL.
Hereditary neuropathy v1.56 NDRG1 Louise Daugherty Source South West GLH was added to NDRG1.
Hereditary neuropathy v1.56 NAGLU Louise Daugherty Source South West GLH was added to NAGLU.
Hereditary neuropathy v1.56 MYPN Louise Daugherty Source South West GLH was added to MYPN.
Hereditary neuropathy v1.56 MYOZ2 Louise Daugherty Source South West GLH was added to MYOZ2.
Hereditary neuropathy v1.56 MYL3 Louise Daugherty Source South West GLH was added to MYL3.
Hereditary neuropathy v1.56 MYL2 Louise Daugherty Source South West GLH was added to MYL2.
Hereditary neuropathy v1.56 MYH7 Louise Daugherty Source South West GLH was added to MYH7.
Hereditary neuropathy v1.56 MYH6 Louise Daugherty Source South West GLH was added to MYH6.
Hereditary neuropathy v1.56 MYH14 Louise Daugherty Source South West GLH was added to MYH14.
Hereditary neuropathy v1.56 MYBPC3 Louise Daugherty Source South West GLH was added to MYBPC3.
Hereditary neuropathy v1.56 MTTP Louise Daugherty Source South West GLH was added to MTTP.
Hereditary neuropathy v1.56 MTMR2 Louise Daugherty Source South West GLH was added to MTMR2.
Hereditary neuropathy v1.56 MRE11 Louise Daugherty Source South West GLH was added to MRE11.
Hereditary neuropathy v1.56 MPZ Louise Daugherty Source South West GLH was added to MPZ.
Hereditary neuropathy v1.56 MORC2 Louise Daugherty Source South West GLH was added to MORC2.
Hereditary neuropathy v1.56 MFN2 Louise Daugherty Source South West GLH was added to MFN2.
Hereditary neuropathy v1.56 MED25 Louise Daugherty Source South West GLH was added to MED25.
Hereditary neuropathy v1.56 MARS Louise Daugherty Source South West GLH was added to MARS.
Hereditary neuropathy v1.56 MAP2K2 Louise Daugherty Source South West GLH was added to MAP2K2.
Hereditary neuropathy v1.56 MAP2K1 Louise Daugherty Source South West GLH was added to MAP2K1.
Hereditary neuropathy v1.56 LRSAM1 Louise Daugherty Source South West GLH was added to LRSAM1.
Hereditary neuropathy v1.56 LMNA Louise Daugherty Source South West GLH was added to LMNA.
Hereditary neuropathy v1.56 LITAF Louise Daugherty Source South West GLH was added to LITAF.
Hereditary neuropathy v1.56 LDB3 Louise Daugherty Source South West GLH was added to LDB3.
Hereditary neuropathy v1.56 LAS1L Louise Daugherty Source South West GLH was added to LAS1L.
Hereditary neuropathy v1.56 LAMP2 Louise Daugherty Source South West GLH was added to LAMP2.
Hereditary neuropathy v1.56 LAMA4 Louise Daugherty Source South West GLH was added to LAMA4.
Hereditary neuropathy v1.56 L1CAM Louise Daugherty Source South West GLH was added to L1CAM.
Hereditary neuropathy v1.56 KRAS Louise Daugherty Source South West GLH was added to KRAS.
Hereditary neuropathy v1.56 KIF1B Louise Daugherty Source South West GLH was added to KIF1B.
Hereditary neuropathy v1.56 KCNC3 Louise Daugherty Source South West GLH was added to KCNC3.
Hereditary neuropathy v1.56 KCNA1 Louise Daugherty Source South West GLH was added to KCNA1.
Hereditary neuropathy v1.56 KARS Louise Daugherty Source South West GLH was added to KARS.
Hereditary neuropathy v1.56 JUP Louise Daugherty Source South West GLH was added to JUP.
Hereditary neuropathy v1.56 JPH2 Louise Daugherty Source South West GLH was added to JPH2.
Hereditary neuropathy v1.56 ITPR1 Louise Daugherty Source South West GLH was added to ITPR1.
Hereditary neuropathy v1.56 IGHMBP2 Louise Daugherty Source South West GLH was added to IGHMBP2.
Hereditary neuropathy v1.56 HSPB8 Louise Daugherty Source South West GLH was added to HSPB8.
Hereditary neuropathy v1.56 HSPB3 Louise Daugherty Source South West GLH was added to HSPB3.
Hereditary neuropathy v1.56 HSPB1 Louise Daugherty Source South West GLH was added to HSPB1.
Hereditary neuropathy v1.56 HRAS Louise Daugherty Source South West GLH was added to HRAS.
Hereditary neuropathy v1.56 HOXD10 Louise Daugherty Source South West GLH was added to HOXD10.
Hereditary neuropathy v1.56 HADHB Louise Daugherty Source South West GLH was added to HADHB.
Hereditary neuropathy v1.56 HADHA Louise Daugherty Source South West GLH was added to HADHA.
Hereditary neuropathy v1.56 GNB4 Louise Daugherty Source South West GLH was added to GNB4.
Hereditary neuropathy v1.56 GJB1 Louise Daugherty Source South West GLH was added to GJB1.
Hereditary neuropathy v1.56 GDAP1 Louise Daugherty Source South West GLH was added to GDAP1.
Hereditary neuropathy v1.56 GATAD1 Louise Daugherty Source South West GLH was added to GATAD1.
Hereditary neuropathy v1.56 GARS Louise Daugherty Source South West GLH was added to GARS.
Hereditary neuropathy v1.56 GAN Louise Daugherty Source South West GLH was added to GAN.
Hereditary neuropathy v1.56 GAA Louise Daugherty Source South West GLH was added to GAA.
Hereditary neuropathy v1.56 FXN Louise Daugherty Source South West GLH was added to FXN.
Hereditary neuropathy v1.56 FKTN Louise Daugherty Source South West GLH was added to FKTN.
Hereditary neuropathy v1.56 FIG4 Louise Daugherty Source South West GLH was added to FIG4.
Hereditary neuropathy v1.56 FGF14 Louise Daugherty Source South West GLH was added to FGF14.
Hereditary neuropathy v1.56 FGD4 Louise Daugherty Source South West GLH was added to FGD4.
Hereditary neuropathy v1.56 FBXO38 Louise Daugherty Source South West GLH was added to FBXO38.
Hereditary neuropathy v1.56 EMD Louise Daugherty Source South West GLH was added to EMD.
Hereditary neuropathy v1.56 ELP1 Louise Daugherty Source South West GLH was added to ELP1.
Hereditary neuropathy v1.56 EGR2 Louise Daugherty Source South West GLH was added to EGR2.
Hereditary neuropathy v1.56 DYNC1H1 Louise Daugherty Source South West GLH was added to DYNC1H1.
Hereditary neuropathy v1.56 DTNA Louise Daugherty Source South West GLH was added to DTNA.
Hereditary neuropathy v1.56 DST Louise Daugherty Source South West GLH was added to DST.
Hereditary neuropathy v1.56 DSP Louise Daugherty Source South West GLH was added to DSP.
Hereditary neuropathy v1.56 DSG2 Louise Daugherty Source South West GLH was added to DSG2.
Hereditary neuropathy v1.56 DSC2 Louise Daugherty Source South West GLH was added to DSC2.
Hereditary neuropathy v1.56 DRP2 Louise Daugherty Source South West GLH was added to DRP2.
Hereditary neuropathy v1.56 DNMT1 Louise Daugherty Source South West GLH was added to DNMT1.
Hereditary neuropathy v1.56 DNM2 Louise Daugherty Source South West GLH was added to DNM2.
Hereditary neuropathy v1.56 DNAJB2 Louise Daugherty Source South West GLH was added to DNAJB2.
Hereditary neuropathy v1.56 DMD Louise Daugherty Source South West GLH was added to DMD.
Hereditary neuropathy v1.56 DHTKD1 Louise Daugherty Source South West GLH was added to DHTKD1.
Hereditary neuropathy v1.56 DHH Louise Daugherty Source South West GLH was added to DHH.
Hereditary neuropathy v1.56 DES Louise Daugherty Source South West GLH was added to DES.
Hereditary neuropathy v1.56 DCTN1 Louise Daugherty Source South West GLH was added to DCTN1.
Hereditary neuropathy v1.56 DCAF8 Louise Daugherty Source South West GLH was added to DCAF8.
Hereditary neuropathy v1.56 CTDP1 Louise Daugherty Source South West GLH was added to CTDP1.
Hereditary neuropathy v1.56 CSRP3 Louise Daugherty Source South West GLH was added to CSRP3.
Hereditary neuropathy v1.56 CRYAB Louise Daugherty Source South West GLH was added to CRYAB.
Hereditary neuropathy v1.56 COX6A1 Louise Daugherty Source South West GLH was added to COX6A1.
Hereditary neuropathy v1.56 COQ8A Louise Daugherty Source South West GLH was added to COQ8A.
Hereditary neuropathy v1.56 CLTCL1 Louise Daugherty Source South West GLH was added to CLTCL1.
Hereditary neuropathy v1.56 CHCHD10 Louise Daugherty Source South West GLH was added to CHCHD10.
Hereditary neuropathy v1.56 CCT5 Louise Daugherty Source South West GLH was added to CCT5.
Hereditary neuropathy v1.56 CAV3 Louise Daugherty Source South West GLH was added to CAV3.
Hereditary neuropathy v1.56 CASQ2 Louise Daugherty Source South West GLH was added to CASQ2.
Hereditary neuropathy v1.56 CACNB4 Louise Daugherty Source South West GLH was added to CACNB4.
Hereditary neuropathy v1.56 C12orf65 Louise Daugherty Source South West GLH was added to C12orf65.
Hereditary neuropathy v1.56 BSCL2 Louise Daugherty Source South West GLH was added to BSCL2.
Hereditary neuropathy v1.56 BRAF Louise Daugherty Source South West GLH was added to BRAF.
Hereditary neuropathy v1.56 BICD2 Louise Daugherty Source South West GLH was added to BICD2.
Hereditary neuropathy v1.56 BAG3 Louise Daugherty Source South West GLH was added to BAG3.
Hereditary neuropathy v1.56 ATP7A Louise Daugherty Source South West GLH was added to ATP7A.
Hereditary neuropathy v1.56 ATM Louise Daugherty Source South West GLH was added to ATM.
Hereditary neuropathy v1.56 ATL3 Louise Daugherty Source South West GLH was added to ATL3.
Hereditary neuropathy v1.56 ATL1 Louise Daugherty Source South West GLH was added to ATL1.
Hereditary neuropathy v1.56 ARHGEF10 Louise Daugherty Source South West GLH was added to ARHGEF10.
Hereditary neuropathy v1.56 APTX Louise Daugherty Source South West GLH was added to APTX.
Hereditary neuropathy v1.56 ANKRD1 Louise Daugherty Source South West GLH was added to ANKRD1.
Hereditary neuropathy v1.56 ALDH3A2 Louise Daugherty Source South West GLH was added to ALDH3A2.
Hereditary neuropathy v1.56 AIFM1 Louise Daugherty Source South West GLH was added to AIFM1.
Hereditary neuropathy v1.56 ACTN2 Louise Daugherty Source South West GLH was added to ACTN2.
Hereditary neuropathy v1.56 ACTC1 Louise Daugherty Source South West GLH was added to ACTC1.
Hereditary neuropathy v1.56 ABCC9 Louise Daugherty Source South West GLH was added to ABCC9.
Hereditary neuropathy v1.56 AARS Louise Daugherty Source South West GLH was added to AARS.
Hereditary neuropathy v1.55 ISCA-37436-Loss Louise Daugherty reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ISCA-37436-Gain Louise Daugherty reviewed Region: ISCA-37436-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Differences in sex development v1.32 CYP21A2 Ivone Leong Deleted their comment
Hereditary neuropathy v1.55 ATXN3_CAG Louise Daugherty reviewed STR: ATXN3_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Differences in sex development v1.32 ISCA-37401-Loss Ivone Leong reviewed Region: ISCA-37401-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ATXN2_CAG Louise Daugherty reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ATXN1_CAG Louise Daugherty reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ATXN10_ATTCT Louise Daugherty reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Differences in sex development v1.32 ZFPM2 Ivone Leong reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 WT1 Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 TOE1 Ivone Leong reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 STAR Ivone Leong reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 SRY Ivone Leong reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 SRD5A2 Ivone Leong reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 SOX9 Ivone Leong reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 SOX10 Ivone Leong reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 SAMD9 Ivone Leong reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 RSPO1 Ivone Leong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 RPL10 Ivone Leong reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 POR Ivone Leong reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 NR5A1 Ivone Leong reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 NR0B1 Ivone Leong reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 MAP3K1 Ivone Leong reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 MAMLD1 Ivone Leong reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 LHCGR Ivone Leong reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 HSD3B2 Ivone Leong reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 HSD17B3 Ivone Leong reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 DHH Ivone Leong reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 DHCR7 Ivone Leong reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CYP21A2 Ivone Leong reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CYP19A1 Ivone Leong reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CYP17A1 Ivone Leong reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CYP11B1 Ivone Leong reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CYP11A1 Ivone Leong reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CYB5A Ivone Leong reviewed gene: CYB5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CUL4B Ivone Leong reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CHD7 Ivone Leong reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 CDKN1C Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 ATRX Ivone Leong reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 ARX Ivone Leong reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 AR Ivone Leong reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v1.32 AMHR2 Ivone Leong edited their review of gene: AMHR2: Added comment: 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.; Changed rating: GREEN
Differences in sex development v1.32 AMH Ivone Leong edited their review of gene: AMH: Added comment: 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.; Changed rating: GREEN
Hereditary neuropathy v1.55 YARS Louise Daugherty reviewed gene: YARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 WNK1 Louise Daugherty reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 WARS Louise Daugherty reviewed gene: WARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 VCP Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TYMP Louise Daugherty reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TUBB3 Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TTR Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TRPV4 Louise Daugherty edited their review of gene: TRPV4: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.55 TRPA1 Louise Daugherty reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TRIM2 Louise Daugherty reviewed gene: TRIM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SYT2 Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SURF1 Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPTLC2 Louise Daugherty reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPTLC1 Louise Daugherty reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SMN1 Louise Daugherty reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC5A7 Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC52A3 Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC52A2 Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC52A1 Louise Daugherty reviewed gene: SLC52A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC12A6 Louise Daugherty reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SIGMAR1 Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SH3TC2 Louise Daugherty reviewed gene: SH3TC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SETX Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SEPT9 Louise Daugherty reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SCN9A Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SCN11A Louise Daugherty reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SCN10A Louise Daugherty reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SBF2 Louise Daugherty reviewed gene: SBF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SBF1 Louise Daugherty reviewed gene: SBF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 RETREG1 Louise Daugherty edited their review of gene: RETREG1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.55 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 RAB7A Louise Daugherty reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRX Louise Daugherty reviewed gene: PRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRPS1 Louise Daugherty reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRDM12 Louise Daugherty reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PMP22 Louise Daugherty reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PMP2 Louise Daugherty reviewed gene: PMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PLEKHG5 Louise Daugherty reviewed gene: PLEKHG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PHYH Louise Daugherty reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PEX7 Louise Daugherty reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PDHA1 Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NTRK1 Louise Daugherty reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NGF Louise Daugherty reviewed gene: NGF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NEFL Louise Daugherty reviewed gene: NEFL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NEFH Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NDRG1 Louise Daugherty reviewed gene: NDRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MTMR2 Louise Daugherty reviewed gene: MTMR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MPZ Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MORC2 Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MME Louise Daugherty edited their review of gene: MME: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.55 MFN2 Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MCM3AP Louise Daugherty reviewed gene: MCM3AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 LRSAM1 Louise Daugherty reviewed gene: LRSAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 LMNA Louise Daugherty reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 LITAF Louise Daugherty reviewed gene: LITAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 INF2 Louise Daugherty reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 IGHMBP2 Louise Daugherty reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HSPB8 Louise Daugherty reviewed gene: HSPB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HSPB3 Louise Daugherty reviewed gene: HSPB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HSPB1 Louise Daugherty reviewed gene: HSPB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HK1 Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HINT1 Louise Daugherty reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HARS Louise Daugherty reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GNB4 Louise Daugherty reviewed gene: GNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GLA Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GJB1 Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GDAP1 Louise Daugherty reviewed gene: GDAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GARS Louise Daugherty reviewed gene: GARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GAN Louise Daugherty reviewed gene: GAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FIG4 Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FGD4 Louise Daugherty reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FBXO38 Louise Daugherty reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FBLN5 Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ELP1 Louise Daugherty edited their review of gene: ELP1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary neuropathy v1.55 EGR2 Louise Daugherty reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DNAJB2 Louise Daugherty reviewed gene: DNAJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 COX6A1 Louise Daugherty reviewed gene: COX6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 CNTNAP1 Louise Daugherty reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 CHCHD10 Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 BICD2 Louise Daugherty reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATP7A Louise Daugherty reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATP1A1 Louise Daugherty reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATL3 Louise Daugherty reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ARHGEF10 Louise Daugherty reviewed gene: ARHGEF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 AIFM1 Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.54 ATP1A1 Louise Daugherty Phenotypes for gene: ATP1A1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Hereditary neuropathy v1.53 ATP1A1 Louise Daugherty Publications for gene: ATP1A1 were set to
Hereditary neuropathy v1.52 YARS James Polke reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 WNK1 James Polke reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 WARS James Polke reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 VCP James Polke reviewed gene: VCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 TYMP James Polke reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TUBB3 James Polke reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TTR James Polke reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 TRPV4 James Polke reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 TRPA1 James Polke reviewed gene: TRPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TRIM2 James Polke reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TFG James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SYT2 James Polke reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SURF1 James Polke reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SPTLC2 James Polke reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SPTLC1 James Polke reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SPAST James Polke reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SMN1 James Polke reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC5A7 James Polke reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC52A3 James Polke reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC52A2 James Polke reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC52A1 James Polke reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SLC12A6 James Polke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SIGMAR1 James Polke reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SH3TC2 James Polke reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SETX James Polke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SEPT9 James Polke reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SCN9A James Polke reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SCN11A James Polke reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SCN10A James Polke reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SBF2 James Polke reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SBF1 James Polke reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SACS James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 RETREG1 James Polke reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 REEP1 James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 RAB7A James Polke reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PRX James Polke reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PRPS1 James Polke reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PRNP James Polke reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PRDM12 James Polke reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 POLG James Polke reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PMP22 James Polke reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PMP2 James Polke reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PLEKHG5 James Polke reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PHYH James Polke reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PEX7 James Polke reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PDHA1 James Polke reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 NTRK1 James Polke reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NGF James Polke reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NEFL James Polke reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NEFH James Polke reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NDRG1 James Polke reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MTMR2 James Polke reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MPZ James Polke reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MPV17 James Polke reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MORC2 James Polke reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MME James Polke reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MFN2 James Polke reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MCM3AP James Polke reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MARS James Polke reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 LRSAM1 James Polke reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 LMNA James Polke reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 LITAF James Polke reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 KIF1A James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 INF2 James Polke reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 IGHMBP2 James Polke reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HSPB8 James Polke reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HSPB3 James Polke reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HSPB1 James Polke reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HK1 James Polke reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 HINT1 James Polke reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HARS James Polke reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 GNB4 James Polke reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 GLA James Polke reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 GJB1 James Polke reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 GDAP1 James Polke reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 GARS James Polke reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 GAN James Polke reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FXN James Polke reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FIG4 James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 FGD4 James Polke reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 FBXO38 James Polke reviewed gene: FBXO38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FBLN5 James Polke reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ELP1 James Polke reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 EGR2 James Polke reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DYNC1H1 James Polke reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DNM2 James Polke reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DNAJB2 James Polke reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 COX6A1 James Polke reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 CNTNAP1 James Polke reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 CHCHD10 James Polke reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 CCT5 James Polke reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 C12orf65 James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 BSCL2 James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 BICD2 James Polke reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 ATP7A James Polke reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 ATP1A1 James Polke reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499166; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Mode of inheritance:
Hereditary neuropathy v1.52 ATM James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ATL3 James Polke reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ATL1 James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 ARHGEF10 James Polke reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 APTX James Polke reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 AIFM1 James Polke reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 AARS James Polke reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.51 YARS Louise Daugherty Source NHS GMS was added to YARS.
Hereditary neuropathy v1.51 WNK1 Louise Daugherty Source NHS GMS was added to WNK1.
Hereditary neuropathy v1.51 WARS Louise Daugherty Source NHS GMS was added to WARS.
Hereditary neuropathy v1.51 VCP Louise Daugherty Source NHS GMS was added to VCP.
Hereditary neuropathy v1.51 TYMP Louise Daugherty Source NHS GMS was added to TYMP.
Hereditary neuropathy v1.51 TUBB3 Louise Daugherty Source NHS GMS was added to TUBB3.
Hereditary neuropathy v1.51 TTR Louise Daugherty Source NHS GMS was added to TTR.
Hereditary neuropathy v1.51 TRPV4 Louise Daugherty Source NHS GMS was added to TRPV4.
Hereditary neuropathy v1.51 TRPA1 Louise Daugherty Source NHS GMS was added to TRPA1.
Hereditary neuropathy v1.51 TRIM2 Louise Daugherty Source NHS GMS was added to TRIM2.
Hereditary neuropathy v1.51 TFG Louise Daugherty Source NHS GMS was added to TFG.
Hereditary neuropathy v1.51 SYT2 Louise Daugherty Source NHS GMS was added to SYT2.
Hereditary neuropathy v1.51 SURF1 Louise Daugherty Source NHS GMS was added to SURF1.
Hereditary neuropathy v1.51 SPTLC2 Louise Daugherty Source NHS GMS was added to SPTLC2.
Hereditary neuropathy v1.51 SPTLC1 Louise Daugherty Source NHS GMS was added to SPTLC1.
Hereditary neuropathy v1.51 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Hereditary neuropathy v1.51 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Hereditary neuropathy v1.51 SMN1 Louise Daugherty Source NHS GMS was added to SMN1.
Hereditary neuropathy v1.51 SLC5A7 Louise Daugherty Source NHS GMS was added to SLC5A7.
Hereditary neuropathy v1.51 SLC52A3 Louise Daugherty Source NHS GMS was added to SLC52A3.
Hereditary neuropathy v1.51 SLC52A2 Louise Daugherty Source NHS GMS was added to SLC52A2.
Hereditary neuropathy v1.51 SLC52A1 Louise Daugherty Source NHS GMS was added to SLC52A1.
Hereditary neuropathy v1.51 SLC12A6 Louise Daugherty Source NHS GMS was added to SLC12A6.
Hereditary neuropathy v1.51 SIGMAR1 Louise Daugherty Source NHS GMS was added to SIGMAR1.
Hereditary neuropathy v1.51 SH3TC2 Louise Daugherty Source NHS GMS was added to SH3TC2.
Hereditary neuropathy v1.51 SETX Louise Daugherty Source NHS GMS was added to SETX.
Hereditary neuropathy v1.51 SEPT9 Louise Daugherty Source NHS GMS was added to SEPT9.
Hereditary neuropathy v1.51 SCN9A Louise Daugherty Source NHS GMS was added to SCN9A.
Hereditary neuropathy v1.51 SCN11A Louise Daugherty Source NHS GMS was added to SCN11A.
Hereditary neuropathy v1.51 SCN10A Louise Daugherty Source NHS GMS was added to SCN10A.
Hereditary neuropathy v1.51 SBF2 Louise Daugherty Source NHS GMS was added to SBF2.
Hereditary neuropathy v1.51 SBF1 Louise Daugherty Source NHS GMS was added to SBF1.
Hereditary neuropathy v1.51 SACS Louise Daugherty Source NHS GMS was added to SACS.
Hereditary neuropathy v1.51 RETREG1 Louise Daugherty Source NHS GMS was added to RETREG1.
Hereditary neuropathy v1.51 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Hereditary neuropathy v1.51 RAB7A Louise Daugherty Source NHS GMS was added to RAB7A.
Hereditary neuropathy v1.51 PRX Louise Daugherty Source NHS GMS was added to PRX.
Hereditary neuropathy v1.51 PRPS1 Louise Daugherty Source NHS GMS was added to PRPS1.
Hereditary neuropathy v1.51 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Hereditary neuropathy v1.51 PRDM12 Louise Daugherty Source NHS GMS was added to PRDM12.
Hereditary neuropathy v1.51 POLG Louise Daugherty Source NHS GMS was added to POLG.
Hereditary neuropathy v1.51 PMP22 Louise Daugherty Source NHS GMS was added to PMP22.
Hereditary neuropathy v1.51 PMP2 Louise Daugherty Source NHS GMS was added to PMP2.
Hereditary neuropathy v1.51 PLEKHG5 Louise Daugherty Source NHS GMS was added to PLEKHG5.
Hereditary neuropathy v1.51 PHYH Louise Daugherty Source NHS GMS was added to PHYH.
Hereditary neuropathy v1.51 PEX7 Louise Daugherty Source NHS GMS was added to PEX7.
Hereditary neuropathy v1.51 PDHA1 Louise Daugherty Source NHS GMS was added to PDHA1.
Hereditary neuropathy v1.51 NTRK1 Louise Daugherty Source NHS GMS was added to NTRK1.
Hereditary neuropathy v1.51 NGF Louise Daugherty Source NHS GMS was added to NGF.
Hereditary neuropathy v1.51 NEFL Louise Daugherty Source NHS GMS was added to NEFL.
Hereditary neuropathy v1.51 NEFH Louise Daugherty Source NHS GMS was added to NEFH.
Hereditary neuropathy v1.51 NDRG1 Louise Daugherty Source NHS GMS was added to NDRG1.
Hereditary neuropathy v1.51 MTMR2 Louise Daugherty Source NHS GMS was added to MTMR2.
Hereditary neuropathy v1.51 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Hereditary neuropathy v1.51 MPZ Louise Daugherty Source NHS GMS was added to MPZ.
Hereditary neuropathy v1.51 MPV17 Louise Daugherty Source NHS GMS was added to MPV17.
Hereditary neuropathy v1.51 MORC2 Louise Daugherty Source NHS GMS was added to MORC2.
Hereditary neuropathy v1.51 MME Louise Daugherty Source NHS GMS was added to MME.
Hereditary neuropathy v1.51 MFN2 Louise Daugherty Source NHS GMS was added to MFN2.
Hereditary neuropathy v1.51 MCM3AP Louise Daugherty Source NHS GMS was added to MCM3AP.
Hereditary neuropathy v1.51 MARS Louise Daugherty Source NHS GMS was added to MARS.
Hereditary neuropathy v1.51 LRSAM1 Louise Daugherty Source NHS GMS was added to LRSAM1.
Hereditary neuropathy v1.51 LMNA Louise Daugherty Source NHS GMS was added to LMNA.
Hereditary neuropathy v1.51 LITAF Louise Daugherty Source NHS GMS was added to LITAF.
Hereditary neuropathy v1.51 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Hereditary neuropathy v1.51 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Hereditary neuropathy v1.51 INF2 Louise Daugherty Source NHS GMS was added to INF2.
Hereditary neuropathy v1.51 IGHMBP2 Louise Daugherty Source NHS GMS was added to IGHMBP2.
Hereditary neuropathy v1.51 HSPB8 Louise Daugherty Source NHS GMS was added to HSPB8.
Hereditary neuropathy v1.51 HSPB3 Louise Daugherty Source NHS GMS was added to HSPB3.
Hereditary neuropathy v1.51 HSPB1 Louise Daugherty Source NHS GMS was added to HSPB1.
Hereditary neuropathy v1.51 HK1 Louise Daugherty Source NHS GMS was added to HK1.
Hereditary neuropathy v1.51 HINT1 Louise Daugherty Source NHS GMS was added to HINT1.
Hereditary neuropathy v1.51 HARS Louise Daugherty Source NHS GMS was added to HARS.
Hereditary neuropathy v1.51 GNB4 Louise Daugherty Source NHS GMS was added to GNB4.
Hereditary neuropathy v1.51 GLA Louise Daugherty Source NHS GMS was added to GLA.
Hereditary neuropathy v1.51 GJB1 Louise Daugherty Source NHS GMS was added to GJB1.
Hereditary neuropathy v1.51 GDAP1 Louise Daugherty Source NHS GMS was added to GDAP1.
Hereditary neuropathy v1.51 GARS Louise Daugherty Source NHS GMS was added to GARS.
Hereditary neuropathy v1.51 GAN Louise Daugherty Source NHS GMS was added to GAN.
Hereditary neuropathy v1.51 FXN Louise Daugherty Source NHS GMS was added to FXN.
Hereditary neuropathy v1.51 FIG4 Louise Daugherty Source NHS GMS was added to FIG4.
Hereditary neuropathy v1.51 FGD4 Louise Daugherty Source NHS GMS was added to FGD4.
Hereditary neuropathy v1.51 FBXO38 Louise Daugherty Source NHS GMS was added to FBXO38.
Hereditary neuropathy v1.51 FBLN5 Louise Daugherty Source NHS GMS was added to FBLN5.
Hereditary neuropathy v1.51 ELP1 Louise Daugherty Source NHS GMS was added to ELP1.
Hereditary neuropathy v1.51 EGR2 Louise Daugherty Source NHS GMS was added to EGR2.
Hereditary neuropathy v1.51 DYNC1H1 Louise Daugherty Source NHS GMS was added to DYNC1H1.
Hereditary neuropathy v1.51 DNMT1 Louise Daugherty Source NHS GMS was added to DNMT1.
Hereditary neuropathy v1.51 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Hereditary neuropathy v1.51 DNAJB2 Louise Daugherty Source NHS GMS was added to DNAJB2.
Hereditary neuropathy v1.51 DCTN1 Louise Daugherty Source NHS GMS was added to DCTN1.
Hereditary neuropathy v1.51 COX6A1 Louise Daugherty Source NHS GMS was added to COX6A1.
Hereditary neuropathy v1.51 CNTNAP1 Louise Daugherty Source NHS GMS was added to CNTNAP1.
Hereditary neuropathy v1.51 CHCHD10 Louise Daugherty Source NHS GMS was added to CHCHD10.
Hereditary neuropathy v1.51 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Hereditary neuropathy v1.51 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Hereditary neuropathy v1.51 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Hereditary neuropathy v1.51 BICD2 Louise Daugherty Source NHS GMS was added to BICD2.
Hereditary neuropathy v1.51 ATP7A Louise Daugherty Source NHS GMS was added to ATP7A.
Hereditary neuropathy v1.51 ATP1A1 Louise Daugherty Source NHS GMS was added to ATP1A1.
Hereditary neuropathy v1.51 ATM Louise Daugherty Source NHS GMS was added to ATM.
Hereditary neuropathy v1.51 ATL3 Louise Daugherty Source NHS GMS was added to ATL3.
Hereditary neuropathy v1.51 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Hereditary neuropathy v1.51 ARHGEF10 Louise Daugherty Source NHS GMS was added to ARHGEF10.
Hereditary neuropathy v1.51 APTX Louise Daugherty Source NHS GMS was added to APTX.
Hereditary neuropathy v1.51 AIFM1 Louise Daugherty Source NHS GMS was added to AIFM1.
Hereditary neuropathy v1.51 AARS Louise Daugherty Source NHS GMS was added to AARS.
Hereditary neuropathy v1.50 YARS Louise Daugherty Source London North GLH was added to YARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 WNK1 Louise Daugherty Source London North GLH was added to WNK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 WARS Louise Daugherty gene: WARS was added
gene: WARS was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: WARS was set to
Hereditary neuropathy v1.50 VCP Louise Daugherty Source London North GLH was added to VCP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 TYMP Louise Daugherty Source London North GLH was added to TYMP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 TUBB3 Louise Daugherty Source London North GLH was added to TUBB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 TTR Louise Daugherty Source London North GLH was added to TTR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 TRPV4 Louise Daugherty Source London North GLH was added to TRPV4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 TRPA1 Louise Daugherty gene: TRPA1 was added
gene: TRPA1 was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: TRPA1 was set to
Hereditary neuropathy v1.50 TRIM2 Louise Daugherty Source London North GLH was added to TRIM2.
Hereditary neuropathy v1.50 TFG Louise Daugherty Source London North GLH was added to TFG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SYT2 Louise Daugherty Source London North GLH was added to SYT2.
Hereditary neuropathy v1.50 SURF1 Louise Daugherty gene: SURF1 was added
gene: SURF1 was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: SURF1 was set to
Hereditary neuropathy v1.50 SPTLC2 Louise Daugherty Source London North GLH was added to SPTLC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SPTLC1 Louise Daugherty Source London North GLH was added to SPTLC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SMN1 Louise Daugherty Source London North GLH was added to SMN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SLC5A7 Louise Daugherty Source London North GLH was added to SLC5A7.
Hereditary neuropathy v1.50 SLC52A3 Louise Daugherty Source London North GLH was added to SLC52A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SLC52A2 Louise Daugherty Source London North GLH was added to SLC52A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SLC52A1 Louise Daugherty Source London North GLH was added to SLC52A1.
Hereditary neuropathy v1.50 SLC12A6 Louise Daugherty Source London North GLH was added to SLC12A6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SIGMAR1 Louise Daugherty Source London North GLH was added to SIGMAR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SH3TC2 Louise Daugherty Source London North GLH was added to SH3TC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SETX Louise Daugherty Source London North GLH was added to SETX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SEPT9 Louise Daugherty Source London North GLH was added to SEPT9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SCN9A Louise Daugherty Source London North GLH was added to SCN9A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SCN11A Louise Daugherty Source London North GLH was added to SCN11A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SCN10A Louise Daugherty gene: SCN10A was added
gene: SCN10A was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: SCN10A was set to
Hereditary neuropathy v1.50 SBF2 Louise Daugherty Source London North GLH was added to SBF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 SBF1 Louise Daugherty Source London North GLH was added to SBF1.
Hereditary neuropathy v1.50 SACS Louise Daugherty Source London North GLH was added to SACS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 RETREG1 Louise Daugherty Source London North GLH was added to RETREG1.
Hereditary neuropathy v1.50 REEP1 Louise Daugherty Source London North GLH was added to REEP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 RAB7A Louise Daugherty Source London North GLH was added to RAB7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PRX Louise Daugherty Source London North GLH was added to PRX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PRPS1 Louise Daugherty Source London North GLH was added to PRPS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PRDM12 Louise Daugherty Source London North GLH was added to PRDM12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 POLG Louise Daugherty Source London North GLH was added to POLG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PMP22 Louise Daugherty Source London North GLH was added to PMP22.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PMP2 Louise Daugherty gene: PMP2 was added
gene: PMP2 was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: PMP2 was set to
Hereditary neuropathy v1.50 PLEKHG5 Louise Daugherty Source London North GLH was added to PLEKHG5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PHYH Louise Daugherty Source London North GLH was added to PHYH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PEX7 Louise Daugherty Source London North GLH was added to PEX7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 PDHA1 Louise Daugherty Source London North GLH was added to PDHA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 NTRK1 Louise Daugherty Source London North GLH was added to NTRK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 NGF Louise Daugherty Source London North GLH was added to NGF.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 NEFL Louise Daugherty Source London North GLH was added to NEFL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 NEFH Louise Daugherty gene: NEFH was added
gene: NEFH was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: NEFH was set to
Hereditary neuropathy v1.50 NDRG1 Louise Daugherty Source London North GLH was added to NDRG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MTMR2 Louise Daugherty Source London North GLH was added to MTMR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MT-ATP6 Louise Daugherty Source London North GLH was added to MT-ATP6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MPZ Louise Daugherty Source London North GLH was added to MPZ.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MPV17 Louise Daugherty Source London North GLH was added to MPV17.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MORC2 Louise Daugherty Source London North GLH was added to MORC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MME Louise Daugherty Source London North GLH was added to MME.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MFN2 Louise Daugherty Source London North GLH was added to MFN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 MCM3AP Louise Daugherty gene: MCM3AP was added
gene: MCM3AP was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: MCM3AP was set to
Hereditary neuropathy v1.50 MARS Louise Daugherty Source London North GLH was added to MARS.
Hereditary neuropathy v1.50 LRSAM1 Louise Daugherty Source London North GLH was added to LRSAM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 LMNA Louise Daugherty Source London North GLH was added to LMNA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 LITAF Louise Daugherty Source London North GLH was added to LITAF.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 KIF5A Louise Daugherty Source London North GLH was added to KIF5A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 INF2 Louise Daugherty Source London North GLH was added to INF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 IGHMBP2 Louise Daugherty Source London North GLH was added to IGHMBP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 HSPB8 Louise Daugherty Source London North GLH was added to HSPB8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 HSPB3 Louise Daugherty Source London North GLH was added to HSPB3.
Hereditary neuropathy v1.50 HSPB1 Louise Daugherty Source London North GLH was added to HSPB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 HK1 Louise Daugherty Source London North GLH was added to HK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 HINT1 Louise Daugherty Source London North GLH was added to HINT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 HARS Louise Daugherty Source London North GLH was added to HARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 GNB4 Louise Daugherty Source London North GLH was added to GNB4.
Hereditary neuropathy v1.50 GLA Louise Daugherty Source London North GLH was added to GLA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 GJB1 Louise Daugherty Source London North GLH was added to GJB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 GDAP1 Louise Daugherty Source London North GLH was added to GDAP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 GARS Louise Daugherty Source London North GLH was added to GARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 GAN Louise Daugherty Source London North GLH was added to GAN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 FXN Louise Daugherty Source London North GLH was added to FXN.
Hereditary neuropathy v1.50 FIG4 Louise Daugherty Source London North GLH was added to FIG4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 FGD4 Louise Daugherty Source London North GLH was added to FGD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 FBXO38 Louise Daugherty Source London North GLH was added to FBXO38.
Hereditary neuropathy v1.50 FBLN5 Louise Daugherty Source London North GLH was added to FBLN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 ELP1 Louise Daugherty Source London North GLH was added to ELP1.
Hereditary neuropathy v1.50 EGR2 Louise Daugherty Source London North GLH was added to EGR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 DYNC1H1 Louise Daugherty Source London North GLH was added to DYNC1H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 DNMT1 Louise Daugherty Source London North GLH was added to DNMT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 DNM2 Louise Daugherty Source London North GLH was added to DNM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 DNAJB2 Louise Daugherty Source London North GLH was added to DNAJB2.
Hereditary neuropathy v1.50 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
Hereditary neuropathy v1.50 COX6A1 Louise Daugherty Source London North GLH was added to COX6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 CNTNAP1 Louise Daugherty gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: CNTNAP1 was set to
Hereditary neuropathy v1.50 CHCHD10 Louise Daugherty Source London North GLH was added to CHCHD10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 CCT5 Louise Daugherty Source London North GLH was added to CCT5.
Hereditary neuropathy v1.50 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 BSCL2 Louise Daugherty Source London North GLH was added to BSCL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 BICD2 Louise Daugherty Source London North GLH was added to BICD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 ATP7A Louise Daugherty Source London North GLH was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 ATP1A1 Louise Daugherty gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: ATP1A1 was set to
Hereditary neuropathy v1.50 ATM Louise Daugherty Source London North GLH was added to ATM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 ATL3 Louise Daugherty Source London North GLH was added to ATL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 ARHGEF10 Louise Daugherty Source London North GLH was added to ARHGEF10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 APTX Louise Daugherty Source London North GLH was added to APTX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 AIFM1 Louise Daugherty Source London North GLH was added to AIFM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary neuropathy v1.50 AARS Louise Daugherty Source London North GLH was added to AARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Fetal anomalies v0.220 ASCC1 Rebecca Foulger Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Hereditary spastic paraplegia, childhood onset v1.48 GCH1 Louise Daugherty commented on gene: GCH1: Green Review and rating submitted by Michael Bonello (The Walton Centre NHS Foundation Trust), submitted by Diane Cairns on behalf of North West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, childhood onset v1.48 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SLC33A1 Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 HSPD1 Louise Daugherty edited their review of gene: HSPD1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary spastic paraplegia, childhood onset v1.48 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 CPT1C Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 CAPN1 Louise Daugherty edited their review of gene: CAPN1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary spastic paraplegia, childhood onset v1.48 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AIMP1 Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.48 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 KCNJ2 Louise Daugherty reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 CLCN1 Louise Daugherty reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 CACNA1S Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.6 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.5 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 SCN4A James Polke reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 KCNJ2 James Polke reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 CLCN1 James Polke reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 CACNA1S James Polke reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.5 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.4 SLC2A1 Louise Daugherty Source Expert Review Green was added to SLC2A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 SCN4A Louise Daugherty Source Expert Review Green was added to SCN4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 KCNJ2 Louise Daugherty Source Expert Review Green was added to KCNJ2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 CLCN1 Louise Daugherty Source Expert Review Green was added to CLCN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 CACNA1S Louise Daugherty Source Expert Review Green was added to CACNA1S.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 CACNA1A Louise Daugherty Source Expert Review Green was added to CACNA1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.4 ATP1A2 Louise Daugherty Source Expert Review Green was added to ATP1A2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.3 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Skeletal muscle channelopathy v0.3 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Skeletal muscle channelopathy v0.3 KCNJ2 Louise Daugherty Source NHS GMS was added to KCNJ2.
Skeletal muscle channelopathy v0.3 CLCN1 Louise Daugherty Source NHS GMS was added to CLCN1.
Skeletal muscle channelopathy v0.3 CACNA1S Louise Daugherty Source NHS GMS was added to CACNA1S.
Skeletal muscle channelopathy v0.3 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Skeletal muscle channelopathy v0.3 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Skeletal muscle channelopathy v0.2 SLC2A1 Louise Daugherty gene: SLC2A1 was added
gene: SLC2A1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: SLC2A1 was set to
Skeletal muscle channelopathy v0.2 SCN4A Louise Daugherty gene: SCN4A was added
gene: SCN4A was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: SCN4A was set to
Skeletal muscle channelopathy v0.2 KCNJ2 Louise Daugherty gene: KCNJ2 was added
gene: KCNJ2 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: KCNJ2 was set to
Skeletal muscle channelopathy v0.2 CLCN1 Louise Daugherty gene: CLCN1 was added
gene: CLCN1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CLCN1 was set to
Skeletal muscle channelopathy v0.2 CACNA1S Louise Daugherty gene: CACNA1S was added
gene: CACNA1S was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CACNA1S was set to
Skeletal muscle channelopathy v0.2 CACNA1A Louise Daugherty gene: CACNA1A was added
gene: CACNA1A was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CACNA1A was set to
Skeletal muscle channelopathy v0.2 ATP1A2 Louise Daugherty gene: ATP1A2 was added
gene: ATP1A2 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: ATP1A2 was set to
Hereditary spastic paraplegia, childhood onset v1.47 DARS Louise Daugherty Classified gene: DARS as Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.47 DARS Louise Daugherty Gene: dars has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v1.46 GCH1 Louise Daugherty Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.45 GCH1 Louise Daugherty Classified gene: GCH1 as Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.45 GCH1 Louise Daugherty Gene: gch1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v1.44 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)