Structural eye disease
Gene: ASPH

ASPH (aspartate beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000198363
EnsemblGeneIds (GRCh37): ENSG00000198363
OMIM: 600582, Gene2Phenotype
ASPH is in 5 panels

4 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Patel et al. 2014, individual with microspherophakia and dislocated lens with homozygous frameshift, het in parent, plus two unrelated individuals with homozygous missense, inheritance unknown. Chandran et al. 2019 individual with dislocated micropsherophakic lens with homozygous frameshift, het in parents. Van Hoorde et al. 2021 siblings with iridodonesis and subluxated lens with homozygous frameshift, segregation unknown. Senthil et al. 2021 three families, two with same hom frameshift which appears to be quite common. Third family with homozygous missense, het in parents. Abarca-Barrica et al. 2018 further individual with ectopia lentis with homozygous stopgain, het in parents.
Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.

Panel Version: 1.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Traboulsi syndrome 601552

Publications

Created: 20 Jan 2022, 11:38 a.m.
Last Modified: 20 Jan 2022, 11:38 a.m.
Panel version: 1.101

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Traboulsi syndrome

Publications

24768550

Created: 21 Oct 2021, 3:55 p.m.
Last Modified: 21 Oct 2021, 3:55 p.m.
Panel version: 1.83

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:54 a.m. | Last Modified: 8 Mar 2022, 10:54 a.m.

Panel Version: 1.115

Comment on publications: Additional case; however, I could not access the article.
Created: 27 Jul 2021, 10:50 a.m. | Last Modified: 27 Jul 2021, 10:50 a.m.

Panel Version: 1.76

Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There are >3 unrelated cases, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 27 Jul 2021, 10:50 a.m. | Last Modified: 27 Jul 2021, 10:50 a.m.

Panel Version: 1.75

Created: 27 Jul 2021, 10:50 a.m.
Last Modified: 27 Jul 2021, 10:50 a.m.
Panel version: 1.115

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Sources: Literature
Created: 22 Jul 2021, 5:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ectopia lentis; facial dysmorphism; Traboulsi syndrome

Publications

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

Created: 22 Jul 2021, 5:44 p.m.

Panel version: 1.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Traboulsi syndrome, OMIM:601552

OMIM

600582

Clinvar variants

Variants in ASPH

Penetrance

None

Publications

Panels with this gene