Coarse facial features including Coffin-Siris-like disorders

Gene: CTSA

Red List (low evidence)

CTSA (cathepsin A)
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 12 panels

1 review

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • http://www.ncbi.nlm.nih.gov/pubmed/23915561

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

30 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

CTSA was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN

30 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

CTSA was created by alicegardham