ClinGen Dosage Sensitivity Curation Page
ARSD
- Curation Status: Complete
- id: ISCA-33470
- Date last evaluated: 2016-07-21
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ARSD at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/414
- OMIM: https://omim.org/entry/300002
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.293
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Haploinsufficiency phenotype comments:
No loss of function changes or focal deletions described for ARSD. This gene is at the boundary of the Xp pseudoautosomal region
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
No focal duplications described for ARSD. This gene is at the boundary of the Xp pseudoautosomal region
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.