URB1

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Name:	URB1 ribosome biogenesis homolog
Symbol:	URB1
XREF(s):	OMIM HGNC ORPHANET
Created:	01 Sep 2022 - 15:15
Changed:	01 Sep 2022 - 15:16

Related Genetic Tests

• Thyroid disgenesis (38 genes)

Related Gene Panels

• Thyroid disgenesis (38 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AP2S1	100.00	0	No comment
  CASR	100.00	0	No comment
  CDCA8	100.00	0	No comment
  DUOX1	100.00	0	No comment
  DUOX2	100.00	0	No comment
  DUOXA2	100.00	0	No comment
  DYRK1A	100.00	0	No comment
  ELN	100.00	0	No comment
  FOXE1	60.48	0	No comment
  GAS1	62.99	0	No comment
  GLIS3	100.00	0	No comment
  GNA11	99.51	0	No comment
  GNAS	98.96	0	No comment
  GNAS-AS1	100.00	0	No comment
  IYD	100.00	0	No comment
  JAG1	99.66	0	No comment
  KAT6B	100.00	0	No comment
  KDM6A	100.00	0	No comment
  KMT2D	100.00	0	No comment
  NKX2-1	92.46	0	No comment
  NKX2-5	100.00	0	No comment
  NTN1	95.84	0	No comment
  PAX8	100.00	0	No comment
  SALL1	100.00	0	No comment
  SECISBP2	98.68	0	No comment
  SLC11A2	100.00	0	No comment
  SLC26A4	99.99	0	No comment
  SLC26A7	100.00	0	No comment
  SLC5A5	100.00	0	No comment
  STX16	100.00	0	No comment
  TBX1	77.39	0	No comment
  TG	100.00	0	No comment
  THRA	100.00	0	No comment
  THRB	100.00	0	No comment
  THPO	99.84	0	No comment
  TSHR	100.00	0	No comment
  TUBB1	100.00	0	No comment
  URB1	99.99	0	No comment