Corneal abnormalities
Gene: ALDH18A1Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group and unsure whether this should be included as green.Created: 22 Feb 2017, 10:40 a.m.
Comment on list classification: Expert review green and more than 3 cases/family reports for both the recessive and dominant.Created: 15 Feb 2017, 5:59 p.m.
Comment on mode of inheritance: Cutis laxa, autosomal recessive, type IIIA does include Corneal opacities. Mode of inheritance on the cataracts panel version 1.3 is 'both'.Created: 15 Feb 2017, 5:57 p.m.
Comment on mode of inheritance: Cutis laxa, autosomal recessive, type IIIA does include Corneal opacities. Mode of inheritance on the cataracts panel version 1.3 is 'both'.Created: 15 Feb 2017, 5:57 p.m.
Dominant mutations in ALDH18A1 cause Cutis laxa, autosomal dominant 3. Dominant and recessive mutation sin this gene have been reported to cause Spastic paraplegia 9A (AD) and Spastic paraplegia 9B (AR)Created: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cutis laxa, corneal clouding, and mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for ALDH18A1 were set to cutis laxa, corneal clouding, and mental retardation; Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150
Publications for ALDH18A1 were set to 18388779
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ALDH18A1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel
ALDH18A1 was created by ellenmcdonagh