Ichthyosis and erythrokeratoderma
Gene: ALDH3A2EnsemblGeneIds (GRCh38): ENSG00000072210
EnsemblGeneIds (GRCh37): ENSG00000072210
OMIM: 609523, Gene2Phenotype
ALDH3A2 is in 16 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:31 p.m. | Last Modified: 9 Mar 2022, 12:31 p.m.
Panel Version: 1.71
Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.Created: 24 Aug 2021, 3:53 p.m. | Last Modified: 24 Aug 2021, 4:01 p.m.
Panel Version: 1.64
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)
This is a well-recognised multi-systemic condition that can present with congenital ichthyosis. Early diagnosis is important to monitor other aspects of the condition.
Sources: Expert ReviewCreated: 23 Jul 2020, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Sjogren-Larsson syndrome, OMIM:270200
- OMIM
- 609523
- Clinvar variants
- Variants in ALDH3A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Retinal disorders
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Autosomal recessive congenital ichthyosis
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating was removed from gene: ALDH3A2. Tag Q3_21_NHS_review was removed from gene: ALDH3A2.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_NHS_review tag was added to gene: ALDH3A2.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating tag was added to gene: ALDH3A2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: ALDH3A2 was added gene: ALDH3A2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9829906; 16476818; 25784589; 27547594; 29071827; 29183715; 29375833; 29704247; 30157790; 30403285; 31273323; 31388754; 31944864; 32930514; 34082469; 34315315 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200 Penetrance for gene: ALDH3A2 were set to Complete