Erythrokeratodermia variabilis

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Name:	Erythrokeratodermia variabilis
ORPHAcode:	317
Synonyms:	EKV Erythrokeratodermia variabilis, Mendes da Costa type
XREF(s):	Orphanet MedDRA ICD-10 OMIM OMIM OMIM OMIM
Analyte(s):	GJA1 GJB4 GJB3 KDSR
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Cataract (gene panel)
• Ichthyosis (gene panel)

Related Laboratories

• Centrum Medische Genetica - UZ Gent
• Centrum Menselijke Erfelijkheid - KUL

Related Analytes

• GJA1
• GJB3
• GJB4
• KDSR

Related Gene Panels

• Cataract - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABHD12	99.98	1
  ADAMTSL4	99.66	1
  AGK	99.99	1
  ALDH18A1	99.96	1
  B3GLCT	99.90	1
  BCOR	99.97	1
  BEST1	99.86	1
  BFSP1	100.00	1
  BFSP2	99.09	1
  CHMP4B	99.96	1
  COL11A1	90.72	1
  COL18A1	99.99	1
  COL2A1	99.87	1
  CRYAA	19.49	1
  CRYAB	100.00	1
  CRYBA1	99.99	1
  CRYBA2	100.00	1
  CRYBA4	100.00	1
  CRYBB1	99.46	1
  CRYBB2	99.94	1
  CRYBB3	99.99	1
  CRYGB	99.99	1
  CRYGC	100.00	1
  CRYGD	100.00	1
  CRYGS	100.00	1
  CTDP1	99.97	1
  CYP27A1	100.00	1
  CYP51A1	97.82	1
  DNMBP	99.94	1
  EPG5	99.95	1
  EPHA2	99.99	1
  EYA1	99.81	1
  HYCC1	99.81	1
  FBN1	99.85	1
  FOXE3	99.29	1
  FTL	99.99	1
  FYCO1	100.00	1
  FZD4	100.00	1
  GALK1	100.00	1
  GALT	100.00	1
  GCNT2	100.00	1
  GJA1	100.00	1
  GJA3	100.00	1
  GJA8	99.99	1
  HMX1	100.00	1
  HSF4	99.98	1
  INPP5K	99.94	1
  INTS1	100.00	1
  JAM3	100.00	1
  LCAT	99.97	1
  LEMD2	100.00	1
  LIM2	100.00	1
  LSS	99.98	1
  MAF	99.73	1
  MIPEP	99.98	1
  MIR184	100.00	1
  MYH9	99.95	1
  NDP	99.98	1
  NF2	100.00	1
  NHS	99.96	1
  OCRL	99.89	1
  OPA3	100.00	1
  P3H2	99.93	1
  PANK4	100.00	1
  PAX6	99.95	1
  PITX3	100.00	1
  PXDN	100.00	1
  RRAGA	100.00	1
  SIL1	99.95	1
  SIPA1L3	99.97	1
  SLC16A12	100.00	1
  SLC33A1	99.67	1
  TDRD7	99.87	1
  UNC45B	100.00	1
  VIM	100.00	1
  VSX2	99.99	1
  WFS1	99.99	1

• Ichthyosis and erythroderma (98 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA12	95.00	0	NM_173076.3
  ABHD5	95.00	0	NM_016006.6
  ADAM17	95.00	0	NM_003183.6
  ALDH3A2	95.00	0	NM_000382.3
  ALOX12B	95.00	0	NM_001139.3
  ALOXE3	95.00	0	NM_021628.3
  AP1B1	95.00	0	NM_001127.4
  AP1S1	95.00	0	NM_001283.5
  ASPRV1	95.00	0	NM_152792.4
  ASS1	95.00	0	NM_000050.4
  ATP7A	95.00	0	NM_000052.7
  BCKDHA	95.00	0	NM_000709.4
  BCKDHB	95.00	0	NM_183050.4
  BTD	95.00	0	NM_001370658.1
  BTK	95.00	0	NM_000061.3
  CAPN12	95.00	0	NM_144691.4
  CARD14	95.00	0	NM_024110.4
  CASP14	95.00	0	NM_012114.3
  CAST	95.00	0	NM_001042440.5
  CDSN	95.00	0	NM_001264.5
  CERS3	95.00	0	NM_178842.5
  CHST8	95.00	0	NM_001127896.2
  CLDN1	95.00	0	NM_021101.5
  CPS1	95.00	0	NM_001875.5
  CSTA	95.00	0	NM_005213.4
  CTSB	95.00	0	NM_001908.5
  CYP4F22	95.00	0	NM_173483.4
  DBT	95.00	0	NM_001918.5
  DCLRE1C	95.00	0	NM_001033855.3
  DLD	95.00	0	NM_000108.5
  DSG1	95.00	0	NM_001942.4
  EBP	95.00	0	NM_006579.3
  ELOVL1	95.00	0	NM_001256399.2
  ELOVL4	95.00	0	NM_022726.4
  ERCC2	95.00	0	NM_000400.4
  ERCC3	95.00	0	NM_000122.2
  FLG	95.00	0	NM_002016.2
  FLG2	95.00	0	NM_001014342.3
  GBA1	95.00	0	NM_001005741.3
  GJA1	95.00	0	NM_000165.5
  GJB2	95.00	0	NM_004004.6
  GJB3	95.00	0	NM_024009.3
  GJB4	95.00	0	NM_153212.3
  GJB6	95.00	0	NM_006783.5
  GTF2E2	95.00	0	NM_002095.6
  GTF2H5	95.00	0	NM_207118.3
  HLCS	95.00	0	NM_000411.8
  IL36RN	95.00	0	NM_012275.3
  KDSR	95.00	0	NM_002035.4
  KIT	95.00	0	NM_000222.3
  KRT1	95.00	0	NM_006121.4
  KRT10	95.00	0	NM_000421.5
  KRT14	95.00	0	NM_000526.5
  KRT16	95.00	0	NM_005557.4
  KRT2	95.00	0	NM_000423.3
  KRT5	95.00	0	NM_000424.4
  KRT6C	95.00	0	NM_173086.5
  KRT83	95.00	0	NM_002282.3
  KRT9	95.00	0	NM_000226.4
  LIPN	95.00	0	NM_001102469.2
  LORICRIN	95.00	0	NM_000427.3
  MBTPS2	95.00	0	NM_015884.4
  MPLKIP	95.00	0	NM_138701.4
  MMUT	95.00	0	NM_000255.4
  NIPAL4	95.00	0	NM_001099287.2
  NSDHL	95.00	0	NM_015922.3
  PCCA	95.00	0	NM_000282.4
  PCCB	95.00	0	NM_000532.5
  PERP	95.00	0	NM_022121.5
  PEX7	95.00	0	NM_000288.4
  PHYH	95.00	0	NM_006214.4
  PIGL	95.00	0	NM_004278.4
  PNPLA1	95.00	0	NM_001145717.1
  POMP	95.00	0	NM_015932.6
  RAG1	95.00	0	NM_000448.3
  RAG2	95.00	0	NM_000536.4
  RNF113A	95.00	0	NM_006978.3
  SDR9C7	95.00	0	NM_148897.3
  SERPINB7	95.00	0	NM_003784.4
  SERPINB8	95.00	0	NM_198833.2
  SGPL1	95.00	0	NM_003901.4
  SLC25A13	95.00	0	NM_014251.3
  SLC27A4	95.00	0	NM_005094.4
  SLC30A2	95.00	0	NM_001004434.3
  SLC39A4	95.00	0	NM_130849.4
  SNAP29	95.00	0	NM_004782.4
  SPINK5	95.00	0	NM_006846.4
  SREBF1	95.00	0	NM_004176.5
  ST14	95.00	0	NM_021978.4
  STS	95.00	0	NM_000351.7
  SULT2B1	95.00	0	NM_177973.2
  SUMF1	95.00	0	NM_182760.4
  TBX1	95.00	0	NM_080647.1
  TGM1	95.00	0	NM_000359.3
  TGM5	95.00	0	NM_201631.4
  TRPM4	95.00	0	NM_017636.4
  VIPAS39	95.00	0	NM_022067.4
  VPS33B	95.00	0	NM_018668.5

• test
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	0	No comment
  ABAT	100.00	0	No comment
  ACTB	99.92	0	No comment
  ACTG1	100.00	0	No comment
  ACTL6B	99.16	0	No comment
  ACY1	99.96	0	No comment
  ADAR	99.99	0	No comment
  ADPRS	91.11	0	No comment
  ADSL	99.73	0	No comment
  AFG3L2	95.23	0	No comment
  ALDH7A1	99.83	0	No comment
  ALG11	100.00	0	No comment
  ALG13	95.29	0	No comment
  AMT	100.00	0	No comment
  ANKRD11	99.99	0	No comment
  AP3B2	97.74	0	No comment
  AP4S1	87.73	0	No comment
  ARFGEF2	99.81	0	No comment
  ARHGEF9	99.89	0	No comment
  ARID1B	87.88	0	No comment
  ARV1	89.03	0	No comment
  ARX	59.32	0	No comment
  ASXL3	99.74	0	No comment
  ATN1	99.12	0	No comment
  ATP1A2	99.88	0	No comment
  ATP1A3	99.81	0	No comment
  BRAT1	99.96	0	No comment
  BSCL2	100.00	0	No comment
  CACNA1A	92.18	0	No comment
  CACNA1B	93.35	0	No comment
  CACNA1E	99.99	0	No comment
  CACNA1G	99.63	0	No comment
  CACNA2D2	94.11	0	No comment
  CASK	99.78	0	No comment
  CDK13	88.47	0	No comment
  CDKL5	97.71	0	No comment
  CERS1	76.68	0	No comment
  CERT1	99.89	0	No comment
  CHD2	99.95	0	No comment
  CLCN4	99.94	0	No comment
  CLN3	99.98	0	No comment
  CLN5	97.84	0	No comment
  CLN6	91.00	0	No comment
  CLN8	100.00	0	No comment
  CLTC	100.00	0	No comment
  CNKSR2	99.28	0	No comment
  CNTNAP2	99.99	0	No comment
  COL18A1	96.27	0	No comment
  COL4A1	98.54	0	No comment
  CPLX1	99.70	0	No comment
  CPT2	97.07	0	No comment
  CSNK2B	100.00	0	No comment
  CSTB	92.54	0	No comment
  CTSD	97.90	0	No comment
  CUX2	98.72	0	No comment
  CYFIP2	99.99	0	No comment
  DCX	99.86	0	No comment
  DDX3X	99.66	0	No comment
  DENND5A	98.99	0	No comment
  DEPDC5	99.97	0	No comment
  DHDDS	99.77	0	No comment
  DMXL2	99.86	0	No comment
  DNM1	94.54	0	No comment
  DNM1L	99.97	0	No comment
  DOCK7	99.35	0	No comment
  DYRK1A	100.00	0	No comment
  EEF1A2	91.59	0	No comment
  EHMT1	98.44	0	No comment
  EPM2A	81.75	0	No comment
  FARS2	99.99	0	No comment
  FGF12	100.00	0	No comment
  FLNA	99.50	0	No comment
  FMN2	92.71	0	No comment
  FMR1	99.71	0	No comment
  FOLR1	100.00	0	No comment
  FOXG1	75.13	0	No comment
  FRRS1L	69.11	0	No comment
  FZR1	100.00	0	No comment
  GABBR2	95.14	0	No comment
  GABRA1	100.00	0	No comment
  GABRA2	100.00	0	No comment
  GABRB1	100.00	0	No comment
  GABRB2	100.00	0	No comment
  GABRB3	98.87	0	No comment
  GABRG2	92.15	0	No comment
  GAD1	100.00	0	No comment
  GAMT	95.00	0	No comment
  GBA1	100.00	0	No comment
  GLDC	96.06	0	No comment
  GNAO1	100.00	0	No comment
  GNB1	100.00	0	No comment
  GNB5	99.70	0	No comment
  GOSR2	99.87	0	No comment
  GPHN	100.00	0	No comment
  GRIA2	100.00	0	No comment
  GRIA3	97.93	0	No comment
  GRIK2	99.97	0	No comment
  GRIN1	99.74	0	No comment
  GRIN2A	100.00	0	No comment
  GRIN2B	100.00	0	No comment
  GRIN2D	61.45	0	No comment
  HCN1	93.52	0	No comment
  HECW2	99.99	0	No comment
  HNRNPU	95.95	0	No comment
  HUWE1	99.62	0	No comment
  IER3IP1	99.80	0	No comment
  IFIH1	99.99	0	No comment
  IQSEC2	91.31	0	No comment
  IRF2BPL	91.18	0	No comment
  ITPA	100.00	0	No comment
  KANSL1	99.98	0	No comment
  KARS1	99.99	0	No comment
  KCNA1	100.00	0	No comment
  KCNA2	100.00	0	No comment
  KCNB1	99.01	0	No comment
  KCNC1	99.52	0	No comment
  KCNH1	99.96	0	No comment
  KCNJ10	100.00	0	No comment
  KCNK4	96.68	0	No comment
  KCNMA1	99.92	0	No comment
  KCNQ2	98.57	0	No comment
  KCNQ3	95.56	0	No comment
  KCNQ5	94.69	0	No comment
  KCNT1	97.66	0	No comment
  KCNT2	100.00	0	No comment
  KCTD7	97.74	0	No comment
  KDM5C	99.69	0	No comment
  KIF1A	99.96	0	No comment
  KIF2A	99.83	0	No comment
  KIF5C	99.91	0	No comment
  KMT2E	99.89	0	No comment
  MAP1B	99.93	0	No comment
  MBD5	100.00	0	No comment
  MECP2	91.83	0	No comment
  MED13L	99.94	0	No comment
  MEF2C	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MOCS1	97.59	0	No comment
  MOCS2	100.00	0	No comment
  MTOR	99.89	0	No comment
  NARS2	99.98	0	No comment
  NBEA	98.89	0	No comment
  NEU1	100.00	0	No comment
  NEXMIF	99.96	0	No comment
  NF1	99.55	0	No comment
  NF2	99.93	0	No comment
  NHLRC1	99.28	0	No comment
  NIPA1	84.21	0	No comment
  NPRL2	100.00	0	No comment
  NPRL3	100.00	0	No comment
  NRXN1	98.90	0	No comment
  NTRK2	100.00	0	No comment
  NUS1	98.46	0	No comment
  OTUD6B	99.73	0	No comment
  PACS2	96.45	0	No comment
  PAFAH1B1	100.00	0	No comment
  PARS2	100.00	0	No comment
  PCDH19	99.80	0	No comment
  PHACTR1	97.55	0	No comment
  PIGA	99.89	0	No comment
  PIGN	99.84	0	No comment
  PIGQ	100.00	0	No comment
  PIGS	100.00	0	No comment
  PIGT	100.00	0	No comment
  PLCB1	99.97	0	No comment
  PLPBP	99.57	0	No comment
  PNKP	99.98	0	No comment
  PNPO	99.98	0	No comment
  POLG	99.86	0	No comment
  PPP2R5D	99.94	0	No comment
  PPP3CA	99.93	0	No comment
  PPT1	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRRT2	100.00	0	No comment
  PTEN	92.28	0	No comment
  PURA	85.06	0	No comment
  QARS1	100.00	0	No comment
  RELN	99.97	0	No comment
  RHOBTB2	99.98	0	No comment
  RNASEH2A	99.99	0	No comment
  RNASEH2B	93.70	0	No comment
  RNASEH2C	95.34	0	No comment
  ROGDI	94.47	0	No comment
  RORA	97.11	0	No comment
  RORB	100.00	0	No comment
  RTN4IP1	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SCARB2	100.00	0	No comment
  SCN1A	99.91	0	No comment
  SCN1B	95.75	0	No comment
  SCN2A	100.00	0	No comment
  SCN3A	100.00	0	No comment
  SCN8A	99.95	0	No comment
  SERPINI1	99.98	0	No comment
  SETD2	99.95	0	No comment
  SIK1	99.98	0	No comment
  SLC12A5	99.55	0	No comment
  SLC13A5	99.89	0	No comment
  SLC19A3	100.00	0	No comment
  SLC1A2	99.99	0	No comment
  SLC25A12	100.00	0	No comment
  SLC25A22	99.88	0	No comment
  SLC2A1	99.27	0	No comment
  SLC35A2	99.82	0	No comment
  SLC35A3	99.97	0	No comment
  SLC6A1	99.93	0	No comment
  SLC6A8	91.78	0	No comment
  SLC9A6	94.23	0	No comment
  SMARCA2	97.46	0	No comment
  SMC1A	99.50	0	No comment
  SNAP25	100.00	0	No comment
  AFG2A	100.00	0	No comment
  SPTAN1	99.98	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	93.40	0	No comment
  STAG1	99.98	0	No comment
  STX1B	99.89	0	No comment
  STXBP1	100.00	0	No comment
  SYN1	75.34	0	No comment
  SYNGAP1	98.18	0	No comment
  SYNJ1	99.27	0	No comment
  SZT2	99.94	0	No comment
  TANC2	100.00	0	No comment
  TBC1D24	99.73	0	No comment
  TBCD	96.99	0	No comment
  TCF4	99.90	0	No comment
  TK2	85.99	0	No comment
  ACD	99.86	0	No comment
  TRAK1	99.99	0	No comment
  TRAPPC6B	100.00	0	No comment
  TREX1	100.00	0	No comment
  TRIT1	99.98	0	No comment
  TSC1	99.97	0	No comment
  TSC2	99.99	0	No comment
  TUBA1A	100.00	0	No comment
  TUBB2B	100.00	0	No comment
  UBA5	99.97	0	No comment
  UBE3A	99.97	0	No comment
  UFC1	99.91	0	No comment
  UGDH	99.96	0	No comment
  VARS1	100.00	0	No comment
  VARS2	100.00	0	No comment
  WDR26	99.78	0	No comment
  WDR45	99.67	0	No comment
  WWOX	100.00	0	No comment
  YWHAG	100.00	0	No comment
  ZBTB18	99.11	0	No comment
  ZEB2	99.91	0	No comment
  ZNHIT3	74.73	0	No comment