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  3. CFAP53
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Paediatric disorders - additional genes

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene is Green on the Familial non syndromic congenital heart disease (panel 212 version 1.49). Promoted from Red to Green.
Created: 26 Nov 2019, 2:41 p.m. | Last Modified: 26 Nov 2019, 2:41 p.m.
Panel Version: 0.37
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 6, autosomal recessive

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive
OMIM
614759
Clinvar variants
Variants in CFAP53
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cfap53 has been classified as Green List (High Evidence).

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cfap53 has been classified as Green List (High Evidence).

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CFAP53 was added gene: CFAP53 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive