IllnessHypomyelination-congenital cataract syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hypomyelination-congenital cataract syndrome comprising altogether 8 curated genes according to the clinical signs

HP9948

Number of genes

8 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-Genes)
14,1 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
HYCC1	1566	610531	NM_032581.4	AR
GJC2	1320	608803	NM_020435.4	AR
PLP1	834	300401	NM_000533.5	XLR
POLR1C	1041	610060	NM_203290.4	AR
POLR3A	4173	614258	NM_007055.4	AR
POLR3B	3402	614366	NM_018082.6	AR
POLR3K	330	606007	NM_016310.5	AR
TUBB4A	1335	602662	NM_006087.4	AD

Informations about the disease

Synonyms

Allelic: Dystonia 4, torsion, AD (TUBB4A)
Allelic: Lymphatic malformation 3 (GJC2)
Allelic: Spastic paraplegia 2, XL (PLP1)
Allelic: Spastic paraplegia 44, AR (GJC2)
Allelic: Treacher Collins syndrome 3 (POLR1C)
Leukodystrophy, hypomyelinating, 11 (POLR1C)
Leukodystrophy, hypomyelinating, 2 (GJC2)
Leukodystrophy, hypomyelinating, 21 (POLR3K)
Leukodystrophy, hypomyelinating, 5 (FAM126A)
Leukodystrophy, hypomyelinating, 6 (TUBB4A)
Leukodystrophy, hypomyelinating, 7, with/-out oligodontia and/or hypogonadotr. hypogonad. (POLR3A)
Pelizaeus-Merzbacher disease (PLP1)
Wiedemann-Rautenstrauch syndrome (POLR3A)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined