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Research panel - Severe Paediatric Disorders

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 20 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ALDH18A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cutis laxa, autosomal dominant 3, 616603 (3) | Cutis laxa, autosomal recessive, type IIIA, 219150 (3) | Spastic paraplegia 9A, autosomal dominant, 601162 (3) | Spastic paraplegia 9B, autosomal recessive, 616586 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ALDH18A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9B, autosomal recessive, 616586; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9A, autosomal dominant, 601162 for gene: ALDH18A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ALDH18A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ALDH18A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ALDH18A1 was added gene: ALDH18A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to