Rhizomelic chondrodysplasia punctata type 1

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Name:	Rhizomelic chondrodysplasia punctata type 1
ORPHAcode:	309789
XREF(s):	Orphanet ICD-10 OMIM
Analyte(s):	PEX7
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Ichthyosis (gene panel)

Related Laboratories

• Centrum Menselijke Erfelijkheid - KUL

Related Analytes

• PEX7

Related Gene Panels

• Ichthyosis and erythroderma (100 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
  KLK11	95.00	0	NM_001136032.3
  TUFT1	95.00	0	TUFT1