IllnessPerrault syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Perrault syndrome containing 5 core candidate genes and altogether 15 curated genes according to the clinical signs
ID
PP0530
Number of genes
12
Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
21,8 kb (Extended panel: incl. additional genes)
21,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CLPP | 834 | NM_006012.4 | AR | |
HARS2 | 1521 | NM_012208.4 | AR | |
HSD17B4 | 2211 | NM_000414.4 | AR | |
LARS2 | 2712 | NM_015340.4 | AR | |
TWNK | 2055 | NM_021830.5 | AR | |
BMP15 | 1179 | NM_005448.2 | AR | |
CLDN14 | 720 | NM_144492.3 | AR | |
ERAL1 | 1324 | NM_005702.4 | AR | |
FMR1 | 1899 | NM_002024.6 | XL | |
FSHR | 2088 | NM_000145.4 | AR | |
RMND1 | 1350 | NM_017909.4 | AR | |
SGO2 | 3854 | NM_001160033.1 | AR |
Informations about the disease
Clinical Comment
Association of ovarian dysgenesis in females with sensorineural hearing impairment, at times with neurologic abnormalities, notably progressive cerebellar ataxia + intellectual deficit
Synonyms
- Alias: Ovarian dysgenesis with sensorineural deafness
- Allelic: D-bifunctional protein deficiency (HSD17B4)
- Allelic: Fragile X syndrome (FMR1_CCG)
- Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
- Allelic: Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
- Allelic: Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Allelic: Ovarian hyperstimulation syndrome (FSHR)
- Allelic: Ovarian response to FSH stimulation (FSHR)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- Allelic: Spermatogenic failure 32 (SOHLH1)
- Combined oxidative phosphorylation deficiency 11 (RMND1)
- Deafness, AR 29 (CLDN14)
- Ovarian dysgenesis 1 (FSHR)
- Ovarian dysgenesis 2 (BMP15)
- Ovarian dysgenesis 3 (PSMC3IP)
- Ovarian dysgenesis 4 (MCM9)
- Ovarian dysgenesis 5 (SOHLH1)
- Perrault syndrome 1 (HSD17B4)
- Perrault syndrome 2 (HARS2)
- Perrault syndrome 3 (CLPP)
- Perrault syndrome 4 (LARS2)
- Perrault syndrome 5 (TWNK)
- Perrault syndrome 6 (ERAL1)
- Perrault syndrome [panelapp] (SGO2)
- Premature ovarian failure 1 (FMR1_CCG)
- Premature ovarian failure 4 (BMP15)
Heredity, heredity patterns etc.
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined