IllnessHereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome comprising 5 curated genes according to the clinical signs

PP9222

Number of genes

4 Accredited laboratory test

Examined sequence length

2,2 kb (Core-/Core-canditate-Genes)
8,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FAM111B	2115	615584	NM_001142703.2	AD
FERMT1	2034	607900	NM_017671.5	AR
RECQL4	3628	603780	NM_004260.4	AR
USB1	744	613276	NM_001195302.2	AR

Informations about the disease

Synonyms

Allelic: Baller-Gerold syndrome (RECQL4)
Allelic: RAPADILINO syndrome (RECQL4)
Kindler syndrome (FERMT1)
Poikiloderma with neutropenia (USB1)
Poikiloderma, hered. fibrosing, with tendon contractures, myopathy + pulmonary fibrosis (FAM111B)
Rothmund-Thomson syndrome, type 1 (ANAPC1)
Rothmund-Thomson syndrome, type 2 (RECQL4)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined