1. Panels
  2. Familial non syndromic congenital heart disease
  3. CFAP53
STRs in panel
Prev Next

Familial non syndromic congenital heart disease

Gene: CFAP53

Green List (high evidence)
CFAP53 (cilia and flagella associated protein 53)
EnsemblGeneIds (GRCh38): ENSG00000172361
EnsemblGeneIds (GRCh37): ENSG00000172361
OMIM: 614759, Gene2Phenotype
CFAP53 is in 5 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient cases for inclusion regarding laterality phenotype.
Created: 4 Jul 2017, 7:37 a.m.
4 separate families identified in the three PMIDs with laterality defects (one was an inferred exon 3 deletion) plus evidence of role in motile ciliary organ in zebrafish as supporting evidence.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal

Publications

Created: 4 Jul 2017, 7:24 a.m.

Panel version: 1.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Visceral Heterotaxy
  • Heterotaxy, Visceral, 6, Autosomal
OMIM
614759
Clinvar variants
Variants in CFAP53
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

4 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

4 Jul 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

CFAP53 was added to Familial non syndromic congenital heart diseasepanel. Sources: UKGTN

4 Jul 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

CFAP53 was created by helen.brittain