IllnessPrimrose syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Primrose syndrome containing 1 core gene and altogether 7 curated genes according to the clinical signs

PP3332

Number of loci

Locus type	Count
Gen	7

Accredited laboratory test

Examined sequence length

2,3 kb (Core-/Core-canditate-Genes)
22,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ZBTB20	2226	606025	NM_001164342.2	AD
FMR1	1899	309550	NM_002024.6	XL
GPC3	1743	300037	NM_004484.4	XLR
GPC4	1671	300168	NM_001448.3	XLR
NSD1	8091	606681	NM_022455.5	AD
PTEN	1212	601728	NM_000314.8	AD
SHANK3	5386	606230	NM_001372044.2	AD

Informations about the disease

Synonyms

Alias: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
Allelic: Glioma susceptibility 2 (PTEN)
Allelic: Meningioma (PTEN)
Allelic: Premature ovarian failure 1 (FMR1_CCG)
Allelic: Prostate cancer, somatic (PTEN)
Allelic: Schizophrenia 15 (SHANK3)
Allelic: Wilms tumor, somatic (GPC3)
Cowden syndrome 1 (PTEN)
Fragile X syndrome (FMR1_CCG)
Keipert syndrome (GPC4)
Lhermitte-Duclos syndrome (PTEN)
Macrocephaly/autism syndrome (PTEN)
Phelan-McDermid syndrome (SHANK3)
Primrose syndrome (ZBTB20)
Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
Sotos syndrome 1 (NSD1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined