ALDH7A1

aldehyde dehydrogenase 7 family member A1
OMIM: 107323, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ALDH7A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.307

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100

Green ALDH7A1 in Inborn errors of metabolism


Version 1.277

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epilepsy, pyridoxine-dependent

Green ALDH7A1 in Fetal anomalies


Version 0.344

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY

Green ALDH7A1 in DDG2P


Version 1.81

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY 266100

Green ALDH7A1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.336

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100
Tags
  • treatable

Green ALDH7A1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1039

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY