Clefting
Gene: FAM20C

FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status to Green - although rare, there is enough evidence in he literature to support clefting as an observed phenotype
Created: 29 May 2017, 2:06 p.m.

Comment on publications: Clefting reported in at least three unrelated cases Raine et al. (1989) PMID: 2614802, Chitayat et al. (2007) PMID: 18000911, Gaigi SS et al. (2011) PMID:21948671.
Created: 29 May 2017, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome, 259775

Created: 29 May 2017, 1:27 p.m.

Panel version: 0.210

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Raine syndrome, 259775

OMIM

611061

Clinvar variants

Variants in FAM20C

Penetrance

Complete

Publications

Panels with this gene