Likely inborn error of metabolism
Gene: ALDH4A1

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

Created: 6 Jan 2017, 1:55 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

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

27604308

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