PanelApp (test)
  1. Panels
  2. Lissencephaly and Band Heterotopia
Description
This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.

It contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.

Please also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.
Panel Activity

11 reviewers

  • Andrew Fennell (Monash Genetics)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Lauren Akesson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Chris Ciotta (Victorian Clinical Genetics Services)

44 Entities

44 reviewed, 35 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green Green List (high evidence)
ACTB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baraitser-Winter syndrome 1 (MIM#243310)
Tags
Green Green List (high evidence)
ACTG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baraitser-Winter syndrome 2 (MIM#614583)
Tags
Green Green List (high evidence)
APC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Tags
Green Green List (high evidence)
ARX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked 2, MIM# 300215
Tags
Green Green List (high evidence)
ASPM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 5, primary, autosomal recessive (MIM#608716)
Tags
Green Green List (high evidence)
B3GALNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Tags
Green Green List (high evidence)
B4GAT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Tags
Green Green List (high evidence)
CAMSAP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316
Tags
Green Green List (high evidence)
CASP2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653
Tags
Green Green List (high evidence)
CEP85L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly, posterior predominant
Tags
Green Green List (high evidence)
CRADD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Tags
Green Green List (high evidence)
CTNNA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Tags
Green Green List (high evidence)
DCHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Van Maldergem syndrome 1 (MIM#601390)
Tags
Green Green List (high evidence)
DCX
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
  • Subcortical laminal heterotopia, X-linked 300067
Tags
Green Green List (high evidence)
DYNC1H1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 13, MIM# 614563
Tags
Green Green List (high evidence)
EML1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Band heterotopia (MIM# 600348)
Tags
Green Green List (high evidence)
ISPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643
Tags
Green Green List (high evidence)
KATNB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lissencephaly 6, with microcephaly, MIM# 616212
Tags
Green Green List (high evidence)
KIF2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411
Tags
Green Green List (high evidence)
KIF5C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Tags
Green Green List (high evidence)
LAMA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LAMA2-related muscular dystrophy
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Tags
Green Green List (high evidence)
LAMB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 5, MIM# 615191
Tags
Green Green List (high evidence)
LARGE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Tags
Green Green List (high evidence)
MACF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Tags
Green Green List (high evidence)
NDE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microhydranencephaly 605013
  • Lissencephaly 4 (with microcephaly) 614019
Tags
Green Green List (high evidence)
OSGEP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome 3, MIM#617729
Tags
Green Green List (high evidence)
PAFAH1B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 1, MIM# 607432
  • Subcortical laminar heterotopia, MIM# 607432
  • MONDO:0011830
Tags
  • SV/CNV
Green Green List (high evidence)
PIDD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Tags
Green Green List (high evidence)
RELN
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Tags
Green Green List (high evidence)
TMEM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Tags
  • new gene name
Green Green List (high evidence)
TP73
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
  • brain malformation
  • lissencephaly
Tags
Green Green List (high evidence)
TUBA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 3, MIM#611603
Tags
Green Green List (high evidence)
TUBGCP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly
  • pachygyria
  • subcortical band heterotopia
  • microcephaly
  • intellectual disability
Tags
Green Green List (high evidence)
VLDLR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)
Tags
Amber Amber List (moderate evidence)
CDK5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Tags
Amber Amber List (moderate evidence)
CSNK2A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Okur-Chung neurodevelopmental syndrome (MIM#617062)
Tags
Amber Amber List (moderate evidence)
GMPPB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Tags
Amber Amber List (moderate evidence)
MFN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, MFN2-related
Tags
Amber Amber List (moderate evidence)
NSDHL
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CK syndrome 300831
Tags
Amber Amber List (moderate evidence)
TMX2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Tags
Red Red List (low evidence)
B3GNT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
Tags
Red Red List (low evidence)
BICD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Tags
Red Red List (low evidence)
SRD5A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iq (MIM#612379)
Tags

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