IllnessCASK gene-related disorders, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for CASK gene-related disorders comprising 9 curated genes according to the clinical signs

CP8849

Number of genes

9 Accredited laboratory test

Examined sequence length

2,8 kb (Core-/Core-canditate-Genes)
14,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CASK	2766	300172	NM_003688.3	XL, XLR
SEPSECS	1506	613009	NM_016955.4	AR
SLC16A2	1620	300095	NM_006517.5	XL
STXBP1	1812	602926	NM_003165.6	AD, AR
TSEN15	390	608756	NM_001127394.4	AR
TSEN2	1398	608753	NM_025265.4	AR
TSEN34	933	608754	NM_024075.5	AR
TSEN54	1581	608755	NM_207346.3	AR
VPS53	2499	615850	NM_001128159.3	AR

Synonyms

DD: OMIM - Developmental + epileptic encephalopathy - PS308350 [95 gene entries]
Sympt.: Microcephaly, pontine + cerebellar hypoplasia or XL intell. disability with/-out nystagmus
Allan-Herndon-Dudley syndrome (SLC16A2)
Allelic: Hydranencephaly with abnormal genitalia (ARX)
Allelic: Lissencephaly, XL 2 (ARX)
Allelic: Proud syndrome (ARX)
Developmental + epileptic encephalopathy 1 (ARX)
Developmental + epileptic encephalopathy 4 (STXBP1)
FG syndrome 4 (CASK)
Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
Mental retardation, XL 29 + others (ARX)
Mental retardation, with/-out nystagmus (CASK)
Partington syndrome (ARX)
Pontocerebellar hypoplasia type 2B (TSEN2)
Pontocerebellar hypoplasia type 2C (TSEN34)
Pontocerebellar hypoplasia type 2D (SEPSECS)
Pontocerebellar hypoplasia, type 2E (VPS53)
Pontocerebellar hypoplasia, type 2F (TSEN15)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined