Clefting
Gene: CHRNGComment on publications: Escobar syndrome, MIM:265000 : 1 case of clefting in 7 unrelated families . Hoffmann et al. (2006) PMID: 16826520. Multiple pterygium syndrome, lethal type, MIM:253290, PMID: 27843868 1 case. Clefting is noted in Orphanet as being present in 5%-29% of cases. And PMID: 22167768 large study where Cleft palate was identified in 32/84 (38%) of the lethal and 7/54 (13%) of the non-lethal group.Created: 31 May 2017, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Escobar syndrome, 265000; Multiple pterygium syndrome, lethal type, 253290
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
CHRNG was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Publications for CHRNG were set to 16826520; 22167768;27843868
Publications for CHRNG were set to 16826520; 22167768
Phenotypes for CHRNG were set to Escobar syndrome, 265000; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290; PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
CHRNG was created by LouiseD
CHRNG was added to Cleftingpanel. Sources: Expert list