Corneal abnormalities

Gene: ALDH18A1

Green List (high evidence)

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Chris Campbell (NHS)

Green List (high evidence)

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

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

15 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ALDH18A1 were set to 18388779

15 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Feb 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was created by ellenmcdonagh