IllnessPrader-Willi syndrome, differential diagnosis
Summary
Comprehensive differential diagnostic panel for Prader-Willi syndrome, differential diagnosis, comprising altogether 24 curated genes
68,2 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
Often imprinting dysfunctional -> paternal proximal chromosome 15q inactive/deleted; UPD etc.
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
BBS1 | 1782 | AR, digenisch | |
BBS10 | 2172 | AR | |
MAGEL2 | 3750 | AD | |
PHF6 | 1098 | XLR | |
SIM1 | 2301 | AR | |
SNRPN | 723 | AD | |
WAC | 1944 | AD, AR | |
ALMS1 | 12504 | AR | |
ARL6 | 561 | AR | |
BBS12 | 2133 | AR | |
BBS2 | 2166 | AR | |
BBS4 | 1560 | AR | |
BBS5 | 1026 | AR | |
BBS7 | 2148 | AR | |
BBS9 | 2664 | AR | |
CEP290 | 7440 | AR | |
DMPK | 1920 | AD | |
FMR1 | 1899 | XL | |
MKKS | 1713 | AR | |
SDCCAG8 | 2142 | n.k. | |
SMN1 | 885 | AR | |
TTC8 | 1518 | AR | |
VPS13B | 12069 | AR |
Informations about the disease
Hypothalamic-pituitary dysfunction with severe hypotonia, feeding deficits during neonatal period, then excessive weight gain with hyperphagia, risk of severe obesity in child-/adulthood, learning difficulties, deficits of social skills, behavioral or severe psychiatric problems
Diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, small hands + feet
~70% PWS patients have deletion 15q11.2-q13
1% PWS patients chromosomal rearrangement with deletion in 15q11.2-q13
<1% PWS patients chromosomal rearrangements breaking in 15q11.2-q13
- Alias: Prader-Labhart-Willi syndrome
- Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
- Allelic: Fragile X tremor/ataxia syndrome (FMR1)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
- Allelic: Osseous heteroplasia, progressive (GNAS)
- Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
- Allelic: Premature ovarian failure 1 (FMR1)
- Allelic: Retinitis pigmentosa 51 (TTC8)
- Allelic: Retinitis pigmentosa 55 (ARL6)
- Allelic: Retinitis pigmentosa 74 (BBS2)
- Alstrom syndrome (ALMS1)
- Bardet-Biedl syndrome 1 (BBS1)
- Bardet-Biedl syndrome 1, modifier of (ARL6)
- Bardet-Biedl syndrome 10 (BBS10)
- Bardet-Biedl syndrome 12 (BBS12)
- Bardet-Biedl syndrome 14 (CEP290)
- Bardet-Biedl syndrome 16 (SDCCAG8)
- Bardet-Biedl syndrome 2 (BBS2)
- Bardet-Biedl syndrome 3 (ARL6)
- Bardet-Biedl syndrome 4 (BBS4)
- Bardet-Biedl syndrome 5 (BBS5)
- Bardet-Biedl syndrome 6 (MKKS)
- Bardet-Biedl syndrome 7 (BBS7)
- Bardet-Biedl syndrome 8 (TTC8)
- Bardet-Biedl syndrome 9 (BBS9)
- Borjeson-Forssman-Lehmann syndrome (PHF6)
- Cohen syndrome (VPS13B)
- Desanto-Shinawi syndrome (WAC)
- Fragile X syndrome (FMR1)
- Joubert syndrome 5 (CEP290)
- McKusick-Kaufman syndrome (MKKS)
- Meckel syndrome 4 (CEP290)
- Myotonic dystrophy 1 (DMPK)
- Prader-Willi syndrome (NDN, SNRPN)
- Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
- Pseudopseudohypoparathyroidism (GNAS)
- Schaaf-Yang syndrome (MAGEL2)
- Senior-Loken syndrome 6 (CEP290)
- Senior-Loken syndrome 7 (SDCCAG8)
- Severe early-onset obesity-insulin resistance syndrome - SH2B1 deficiency [MONDO:0017994] (SH2B1)
- Severe obesity with neurobehavioral features (SIM1) [panelapp]
- Spinal muscular atrophy-1 to -4 (SMN1)
- AD
- AR
- XL
- XLR
- digenisch
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined