CFAP53

cilia and flagella associated protein 53
OMIM: 614759, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CFAP53 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Visceral Heterotaxy Heterotaxy, Visceral, 6, Autosomal
Green CFAP53 in Laterality disorders and isomerism Level 2: Respiratory Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Heterotaxy, visceral, 6, autosomal recessive, 614779
Green CFAP53 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive Dextrocardia Transposition of the great arteries gut malrotation midline liver inverted spleen
Green CFAP53 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.46 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Phenotypes Heterotaxy, visceral, 6, autosomal recessive
Red CFAP53 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list