Structural eye disease
Gene: ASPH
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome
Publications
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
Sources: LiteratureCreated: 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
Tag Q3_21_rating was removed from gene: ASPH. Tag Q3_21_NHS_review was removed from gene: ASPH.
Source Expert Review Green was added to ASPH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ASPH were set to 31274573; 24768550; 31012784; 34018898
Tag Q3_21_rating tag was added to gene: ASPH. Tag Q3_21_NHS_review tag was added to gene: ASPH.
Publications for gene: ASPH were set to 31274573; 24768550; 31012784
Gene: asph has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ASPH were changed from ectopia lentis; facial dysmorphism; Traboulsi syndrome to Traboulsi syndrome, OMIM:601552
gene: ASPH was added gene: ASPH was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to 31274573; 24768550; 31012784 Phenotypes for gene: ASPH were set to ectopia lentis; facial dysmorphism; Traboulsi syndrome Review for gene: ASPH was set to GREEN gene: ASPH was marked as current diagnostic