Laterality disorders and isomerism

Gene: CFAP53

Green List (high evidence)

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

Phenotypes
OMIM 614779 Heterotaxy, visceral, 6, autosomal recessive

Publications

• 25504577
• 22577226
• 28621423
• 26531781

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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.