Laterality disorders and isomerismGene: CFAP53
On CGGL Royal Brompton panel. No cases detected to date. Limited but adequeate evidence in literature, at least 4 families described.
Created: 25 Nov 2019, 9:42 p.m. | Last Modified: 25 Nov 2019, 9:42 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 614779 Heterotaxy, visceral, 6, autosomal recessive
Variants in this GENE are reported as part of current diagnostic practice
From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient cases for inclusion regarding laterality phenotype. 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. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal. Publications: 26531781, 22577226, 25504577
Created: 17 Jan 2019, 1:52 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CFAP53; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive, 614779
Publications for gene: CFAP53 were set to 26531781; 22577226; 25504577
Mode of inheritance for gene: CFAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to
Source Expert Review Green was added to CFAP53. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CFAP53 was added gene: CFAP53 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CFAP53 was set to