Corneal abnormalities

Gene: ABCA3

Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel.

Created: 3 Mar 2017, 10:14 a.m.

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be red until further evidence.

Created: 22 Feb 2017, 10:22 a.m.

Comment on list classification: One publication reported identifying variants in this gene in 2 Chinese families and 5 sporadic patients. No in vitro or in vivo follow up of functional consquence of the missense variants reported. In silico predictions were reported and expression of ABCA3 was shown to be decreased in two patients with the disorder in family B compared to 3 unaffected individuals in the same family, but was not shown for all affected individuals compared to controls.

Created: 15 Feb 2017, 5:41 p.m.

Green List (high evidence)

Recessive mutations associated with dysfunction of surfactant metabolism

Created: 7 Feb 2017, 5:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
AD Cataract-microcornea syndrome; AR mutations in dysfunction of surfactant metabolism

Publications

• 25406294

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