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Inborn errors of metabolism

Gene: ALDH4A1

Green List (high evidence)

ALDH4A1 (aldehyde dehydrogenase 4 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000159423
EnsemblGeneIds (GRCh37): ENSG00000159423
OMIM: 606811, Gene2Phenotype
ALDH4A1 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported in 4 cases.
Created: 12 Jan 2017, 1:16 p.m.
Comment on publications: Report of novel homozygous deletion in patient with Hyperprolinaemia type II
Created: 12 Jan 2017, 1:16 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Hyperprolinaemia type II (Disorders of ornithine or proline metabolism)
  • Hyperprolinemia, type II
OMIM
606811
Clinvar variants
Variants in ALDH4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDH4A1. Source London North GLH was added to ALDH4A1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ALDH4A1 was added gene: ALDH4A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 27604308 Phenotypes for gene: ALDH4A1 were set to Intellectual disability; Hyperprolinaemia type II (Disorders of ornithine or proline metabolism); Hyperprolinemia, type II