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Mendeliome

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 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported, clinical features are predominantly ID and seizures.
Created: 29 Dec 2021, 2:44 a.m. | Last Modified: 29 Dec 2021, 2:44 a.m.
Panel Version: 0.10363

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperprolinaemia, type II, MIM# 239510

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism.
Sources: NHS GMS
Created: 25 Jan 2021, 12:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperprolinemia, type II MIM#239510
  • disorders of ornithine or proline metabolism
OMIM
606811
Clinvar variants
Variants in ALDH4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldh4a1 has been classified as Green List (High Evidence).

29 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism

29 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDH4A1 were set to

29 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDH4A1 was added gene: ALDH4A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH4A1 was set to Unknown