Typical nemaline myopathy

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Name:	Typical nemaline myopathy
Description:	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
ORPHAcode:	171436
XREF(s):	Orphanet OMIM OMIM OMIM OMIM OMIM OMIM ICD-10
Analyte(s):	ACTA1 CFL2 TPM2 NEB KLHL41 LMOD3
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)

Related Laboratories

• Centrum Medische Genetica - UZ Brussel VUB

Related Analytes

• ACTA1
• CFL2
• KLHL41
• LMOD3
• NEB
• TPM2

Related Gene Panels

• Neuromuscular disorders (166 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACADVL	0.00	0	No value for column 2
  ACTA1	0.00	0	No value for column 2
  AGRN	0.00	0	No value for column 2
  ALDOA	0.00	0	No value for column 2
  ALG14	0.00	0	No value for column 2
  ALG2	99.94	0	No comment
  ALS2	100.00	0	No comment
  ANG	100.00	0	No comment
  ANO5	100.00	0	No comment
  ASAH1	99.94	0	No comment
  ATP7A	100.00	0	No comment
  ATXN2	89.10	0	No comment
  B3GALNT2	85.88	0	No comment
  B4GAT1	100.00	0	No comment
  BAG3	100.00	0	No comment
  BICD2	100.00	0	No comment
  BIN1	100.00	0	No comment
  BSCL2	100.00	0	No comment
  C9ORF72	100.00	0	No comment
  CAV3	100.00	0	No comment
  CFL2	99.75	0	No comment
  CHAT	100.00	0	No comment
  CHKB	99.69	0	No comment
  CHRNA1	100.00	0	No comment
  CHRNB1	100.00	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	100.00	0	No comment
  COL6A1	100.00	0	No comment
  COL6A2	100.00	0	No comment
  COL6A3	100.00	0	No comment
  COLQ	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRPPA	95.75	0	No comment
  CRYAB	100.00	0	No comment
  DAG1	100.00	0	No comment
  DAO	100.00	0	No comment
  DCTN1	100.00	0	No comment
  DES	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DMD	100.00	0	No comment
  DNAJB2	100.00	0	No comment
  DNAJB6	99.34	0	No comment
  DNM2	99.95	0	No comment
  DOK7	98.77	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  DYNC1H1	100.00	0	No comment
  DYSF	100.00	0	No comment
  ECEL1	95.92	0	No comment
  EMD	99.84	0	No comment
  ENO3	100.00	0	No comment
  ETFA	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETFDH	100.00	0	No comment
  EXOSC3	100.00	0	No comment
  FBLN5	100.00	0	No comment
  FBXO38	100.00	0	No comment
  FDX2	100.00	0	No comment
  CFH	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNC	100.00	0	No comment
  FUS	100.00	0	No comment
  GAA	100.00	0	No comment
  GARS1	99.53	0	No comment
  GFPT1	99.98	0	No comment
  GLE1	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNE	100.00	0	No comment
  GRN	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HARS1	100.00	0	No comment
  HEXB	99.82	0	No comment
  HNRNPA1	99.61	0	No comment
  HNRNPA2B1	100.00	0	No comment
  HSPB1	100.00	0	No comment
  HSPB3	100.00	0	No comment
  HSPB8	100.00	0	No comment
  IGHMBP2	100.00	0	No comment
  ISCU	99.39	0	No comment
  KBTBD13	97.91	0	No comment
  KLHL40	100.00	0	No comment
  KLHL9	100.00	0	No comment
  LAMA2	100.00	0	No comment
  LAMB2	100.00	0	No comment
  LARGE1	100.00	0	No comment
  LAS1L	100.00	0	No comment
  LDB3	100.00	0	No comment
  LMNA	99.93	0	No comment
  LPIN1	100.00	0	No comment
  CORIN	98.90	0	No comment
  MATR3	100.00	0	No comment
  MEGF10	100.00	0	No comment
  MTM1	100.00	0	No comment
  MUSK	100.00	0	No comment
  MYBPC3	100.00	0	No comment
  MYH7B	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYOT	100.00	0	No comment
  NEB	99.99	0	No comment
  NEFH	84.73	0	No comment
  OPTN	100.00	0	No comment
  PABPN1	91.84	0	No comment
  PFKM	100.00	0	No comment
  PFN1	100.00	0	No comment
  PGAM2	100.00	0	No comment
  PGK1	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHKA1	100.00	0	No comment
  PHKB	100.00	0	No comment
  PLEC	99.82	0	No comment
  PLEKHG5	99.10	0	No comment
  POLG	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PREPL	100.00	0	No comment
  PYGM	100.00	0	No comment
  QDPR	99.04	0	No comment
  RAPSN	100.00	0	No comment
  REEP1	97.37	0	No comment
  RXYLT1	99.84	0	No comment
  RYR1	98.38	0	No comment
  SCN4A	100.00	0	No comment
  SELENON	84.04	0	No comment
  SETX	100.00	0	No comment
  SIGMAR1	96.60	0	No comment
  SIL1	100.00	0	No comment
  SLC18A3	100.00	0	No comment
  SLC52A2	100.00	0	No comment
  SLC52A3	100.00	0	No comment
  SLC5A7	100.00	0	No comment
  SMN1	96.55	0	No comment
  SNAP25	100.00	0	No comment
  SOD1	100.00	0	No comment
  SQSTM1	93.68	0	No comment
  SYT2	100.00	0	No comment
  TAF15	100.00	0	No comment
  TARDBP	100.00	0	No comment
  TFG	100.00	0	No comment
  TIA1	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT1	98.58	0	No comment
  TNNT3	100.00	0	No comment
  TNPO3	100.00	0	No comment
  TPM2	100.00	0	No comment
  TPM3	99.55	0	No comment
  TRPV4	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TTN	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBQLN2	99.88	0	No comment
  UNC13A	99.87	0	No comment
  VAPB	100.00	0	No comment
  VCP	98.45	0	No comment
  VEGFA	98.73	0	No comment
  VRK1	100.00	0	No comment