IllnessGoltz[-Gorlin]-Syndrom, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Goltz[-Gorlin] syndrome, differential diagnosis, comprising altogether 8 curated genes according to the clinical signs

GP9248

Number of genes

4 Accredited laboratory test

Examined sequence length

1,4 kb (Core-/Core-canditate-Genes)
7,9 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
PORCN	1386	300651	NM_203475.3	XL
HCCS	807	300056	NM_005333.5	XL
RECQL4	3628	603780	NM_004260.4	AR
TP63	2043	603273	NM_003722.5	AD

Informations about the disease

Synonyms

PORCN-rel. devel. disorders: var. multisystemic mesoderm/ectoderm structures: skin/limbs/eyes/face
Alias: Focal Dermal Hypoplasia (PORCN)
Allelic: Immunodeficiency 33 (IKBKG)
Allelic: Orofacial cleft 8 (TP63)
Allelic: RAPADILINO syndrome (RECQL4)
ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
Baller-Gerold syndrome (RECQL4)
Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
Focal dermal hypoplasia (PORCN)
Hay-Wells syndrome (TP63)
Incontinentia pigmenti (IKBKG)
Limb-mammary syndrome (TP63)
Linear skin defects with multiple congenital anomalies 1 (HCCS)
Linear skin defects with multiple congenital anomalies 2 (COX7B)
Linear skin defects with multiple congenital anomalies 3 (NDUFB11)
Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
Rapp-Hodgkin syndrome (TP63)
Rothmund-Thomson syndrome, type 1 (ANAPC1)
Rothmund-Thomson syndrome, type 2 (RECQL4)
Split-hand/foot malformation 4 (TP63)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined