STAP1

Analyte Export to PDF

Name:	signal transducing adaptor family member 1
Symbol:	STAP1
Synonyms:	STAP-1 BRDG1
XREF(s):	OMIM HGNC ORPHANET https://www.ncbi.nlm.nih.gov/gene/26228
Created:	26 Nov 2020 - 10:37
Changed:	30 Nov 2020 - 10:24

Related Genetic Tests

• Hypercholesterolemia (9 genes)
• Hypercholesterolemia, Familial (9 genes)

Related Diseases

• Homozygous familial hypercholesterolemia
• Sea-blue histiocytosis

Related Gene Panels

• Familial Hypercholesterolemia panel (9 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  LDLR	100.00	1	only for 5'UTR + coding exons + intronic borders +/-14pb
  APOB	99.79	0	only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
  APOE	100.00	0	only for coding exons and intronic borders +/-14pb
  PCSK9	100.00	0	only for coding exons and intronic borders +/-14pb
  LDLRAP1	98.69	0	only for coding exons and intronic borders +/-14pb exon 1 is not covered
  LIPA	100.00	0	only for coding exons and intronic borders +/-14pb
  ABCG5	100.00	0	only for coding exons and intronic borders +/-14pb
  ABCG8	100.00	0	only for coding exons and intronic borders +/-14pb
  STAP1	100.00	0	only for coding exons and intronic borders +/-14pb

• Hypercholesterolemia (9 genes) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  LDLR	100.00	1
  APOB	100.00	1
  PCSK9	100.00	1
  ABCG5	100.00	1
  ABCG8	100.00	1
  APOE	100.00	1
  LDLRAP1	100.00	1
  LIPA	100.00	1
  STAP1	100.00	1