CFAP53:Ensemblv90

cilia and flagella associated protein 53
OMIM: 614759, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CFAP53 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.68	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Red CFAP53 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.96	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Green CFAP53 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.44	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Green CFAP53 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Green CFAP53 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Green CFAP53 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Red CFAP53 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Green CFAP53 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779
Green CFAP53 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Genomics England PanelApp Expert Review Green Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779