Condition: COACH syndrome
rs118204052 in
CC2D2A gene and
COACH syndrome
PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.
rs267607020 in
RPGRIP1L gene and
COACH syndrome
PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.
rs137853107 in
TMEM67 gene and
COACH syndrome
PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.
PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
PMID 19058225 2009 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
PMID 28860541 2017 Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
PMID 16415887 2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.