IllnessMicrocephaly + cerebellar hypoplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + cerebellar hypoplasia comprising 3 guideline-curated and another 5 curated genes

MP1228

Number of genes

8 Accredited laboratory test

Examined sequence length

15,8 kb (Core-/Core-canditate-Genes)
23,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CASK	2766	300172	NM_003688.3	XL
RELN	10383	600514	NM_005045.4	AR
VLDLR	2622	192977	NM_003383.5	AR
COASY	1695	609855	NM_025233.7	AR
QARS1	2328	603727	NM_005051.3	AR
TSEN15	390	608756	NM_001127394.4	AR
TSEN54	1581	608755	NM_207346.3	AR
VRK1	1191	602168	NM_003384.3	AR

Clinical Comment

Group of disorders

Ciliary dyskinesias might be considered as well

Synonyms

Allelic: Mental retardation, with or without nystagmus (CASK)
Allelic: Thyroid carcinoma, follicular? (MINPP1)
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (VLDLR)
FG syndrome 4 (CASK)
Lissencephaly 2 [Norman-Roberts type] (RELN)
Mental retardation and microcephaly with pontine + cerebellar hypoplasia (CASK)
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (QARS)
Pontocerebellar hypoplasia type 1A (VRK1)
Pontocerebellar hypoplasia type 2A (TSEN54)
Pontocerebellar hypoplasia type 2F (TSEN15)
Pontocerebellar hypoplasia type 4 (TSEN54)
Pontocerebellar hypoplasia type 5 (TSEN54)
Pontocerebellar hypoplasia, type 14 (PPIL1)
Pontocerebellar hypoplasia, type 16 (MINPP1)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

Q02

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