Choanal atresia

Gene: FAM20C

Green List (high evidence)

FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 12 panels

2 reviews

Sofia Douzgou (Manchester Centre of Genomic Medicine)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 10 Aug 2016, 1:57 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Raine syndrome 259775
OMIM
611061
Clinvar variants
Variants in FAM20C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

FAM20C was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

10 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FAM20C were set to 25974638

10 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FAM20C were set to Raine syndrome 259775

13 Oct 2015, Gel status: 0

Added New Source

Sofia Douzgou (Manchester Centre of Genomic Medicine)

FAM20C was added to Choanal atresiapanel. Sources: Literature