Eye Anterior Segment Abnormalities
Gene: ASPHEnsemblGeneIds (GRCh38): ENSG00000198363
EnsemblGeneIds (GRCh37): ENSG00000198363
OMIM: 600582, Gene2Phenotype
ASPH is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome , MIM#601552
Chirag Patel (Genetic Health Queensland)
Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes flattened malar region with convex nasal ridge. Alterations in the aspartate beta-hydroxylase (ASPH) gene are known to be the cause of the condition. Numerous families reported.
Sources: LiteratureCreated: 18 Apr 2023, 5:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome , MIM#601552
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Traboulsi syndrome , MIM#601552
- OMIM
- 600582
- Clinvar variants
- Variants in ASPH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asph has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: asph has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: ASPH was added gene: ASPH was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to PMID: 24768550, 30194805, 34018898, 35918038 Phenotypes for gene: ASPH were set to Traboulsi syndrome , MIM#601552