IllnessAchondrogenesis type II

Request form illness

Summary

Short information

Curated single gene sequence analysis according to clinical suspicion Achondrogenesis type II

AS0011

Number of genes

1 Accredited laboratory test

Examined sequence length

4,5 kb (Core-/Core-canditate-Genes)
- (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
COL2A1	4464	120140	NM_001844.5	AD

Informations about the disease

Clinical Comment

Lethal with severe micromelia, short neck, large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features (prominent forehead, small chin, cleft palate), distinctive histological features of cartilage

Synonyms

Alias: Achondrogenesis type II or hypochondrogenesis (COL2A1)
Alias: Achondrogenesis, Langer-Saldino type (COL2A1)
Alias: Hypochondrogenesis (COL2A1)
Allelic: Avascular necrosis of the femoral head (COL2A1)
Allelic: Czech dysplasia (COL2A1)
Allelic: Epiphyseal dysplasia, multiple, myopia + deafness (COL2A1)
Allelic: Kniest dysplasia (COL2A1)
Allelic: Legg-Calve-Perthes disease (COL2A1)
Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
Allelic: Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
Allelic: SED congenita (COL2A1)
Allelic: SMED Strudwick type (COL2A1)
Allelic: Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
Allelic: Spondyloperipheral dysplasia (COL2A1)
Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
Allelic: Stickler syndrome, type I (COL2A1)
Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)

Heredity, heredity patterns etc.

OMIM-Ps

120140

ICD10 Code

Bioinformatics and clinical interpretation

No text defined