[epilepsy associated] Brain malformation gene list

The 40 genes relevant for brain malformation testing is included in our EPIDASD panel and can only be ordered as part of an EPIDASD panel.


AKT3

611223

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndr.

ARFGEF2

605371

Periventricular nodular heterotopia

ARX

300382

Lissencephaly

COL4A1

120130

Porencephaly

DCX

300121

Double cortex lissencephaly,

DYNC1H1

600112

Pachygyria

DYRK1A

600855

Severe microcephaly

EMX2

600035

Schizencephaly

EOMES

604615

Microcephaly

ERMARD

615532

Periventricular nodular heterotopia

FLNA

300017

Periventricular nodular heterotopia

GPR56

604110

Polymicrogyria

HESX1

601802

Septooptic dysplasia

IER3IP1

609382

Microcephaly with simplified gyration

KIF2A

602591

Pachygyria, severe congenital microcephaly

KIF5C

604593

Severe microcephaly with other brain malformations

MBD5

156200

Microcephaly

MEF2C

600662

Microcephaly, agenesis of the corpus callosum

MTOR

601231

Hemimegalencephaly, Smith-Kingsmore syndrome

NDE1

609449

Lissencephaly

OCLN

602876

Band-like calcification with simplified gyration and polymicrogyria

PAFAH1B1

601545

Lissencephaly

PAX6

607108

Polymicrogyria

PIK3CA

171834

Hemimegalencephaly

PIK3R2

603157

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndr.

RELN

600514

Lissencephaly with cerebellar hypoplasia

SHH

600725

Holoprosencephaly

SIX3

603714

Holoprosencephaly

SRPX2

300642

Bilateral perisylvian polymicrogyria

TBC1D24

613577

Cortical malformations

TGIF1

602630

Holoprosencephaly

TUBA1A

602529

Lissencephaly

TUBA8

605742

Polymicrogyria with optic nerve hypoplasia

TUBB2B

612850

Polymicrogyria, symmetric or asymmetric

TUBB3

602661

Complex cortical dysplasia with other brain malformations

TUBG1

191135

Complex cortical dysplasia with other brain malformations

VLDLR

192977

Lissencephaly

WDR62

613583

Microcephaly with or without cortical malformations

ZEB2

605802

Mowat-Wilson syndrome

ZIC2

603073

Holoprosencephaly


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