PanelApp (test)
  1. Panels
  2. Polymicrogyria and Schizencephaly
Description
This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.

Please consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.
Panel Activity

16 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Andrew Fennell (Monash Genetics)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Lauren Akesson (Royal Melbourne Hospital)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Chloe Stutterd (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

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

  • Michelle Torres (Victorian Clinical Genetics Services)

83 Entities

72 reviewed, 48 green

List Entity Reviews Mode of inheritance Details
83 Entitiess
Green Green List (high evidence)
ADGRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, MIM#606854
Tags
  • 5'UTR
Green Green List (high evidence)
AKT3
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
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Tags
Green Green List (high evidence)
ARX
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ATP1A2
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
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
  • Developmental and epileptic encephalopathy 98 , MIM#619605
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polymicrogyria
  • epilepsy
  • developmental delay
Tags
Green Green List (high evidence)
BICD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291
Tags
Green Green List (high evidence)
CCND2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938
Tags
Green Green List (high evidence)
COL18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Knobloch syndrome, type 1 MIM# 267750
Tags
Green Green List (high evidence)
COL3A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343
  • Ehlers-Danlos syndrome, vascular type, MIM# 130050
Tags
Green Green List (high evidence)
COL4A1
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
  • 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD
  • 2. Brain small vessel disease with or without ocular anomalies, 175780, AD
  • 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD
  • 4. ?Retinal arteries, tortuosity of, 180000, AD
  • 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Tags
Green Green List (high evidence)
DEPDC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Tags
Green Green List (high evidence)
DYNC1H1
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
GPSM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chudley-McCullough syndrome MIM#604213
Tags
Green Green List (high evidence)
GRIN1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254
Tags
Green Green List (high evidence)
GRIN2B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GRIN2B-related neurodevelopmental disorder
  • Mental retardation, autosomal dominant 6, MIM# 613970
Tags
Green Green List (high evidence)
HSD17B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • D-bifunctional protein deficiency - MIM#261515
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome MIM#609460
Tags
  • new gene name
Green Green List (high evidence)
KIF26A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
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)
LAMC3
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 malformations, occipital, MIM#614115
Tags
Green Green List (high evidence)
MAN2C1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Research
Phenotypes
  • Congenital disorder of deglycosylation 2, MIM# 619775
Tags
Green Green List (high evidence)
MAP1B
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
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918
Tags
Green Green List (high evidence)
MAPK8IP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Tags
Green Green List (high evidence)
MAST1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273
Tags
Green Green List (high evidence)
NDE1
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NEDD4L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Periventricular nodular heterotopia 7, MIM# 617201
  • polymicrogyria
  • syndactyly
Tags
Green Green List (high evidence)
OCLN
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Tags
Green Green List (high evidence)
PEX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Tags
Green Green List (high evidence)
PIK3CA
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PIK3R2
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly/autism syndrome, MIM# 605309
Tags
Green Green List (high evidence)
RAB18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 3, MIM# 614222
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 2 614225
Tags
Green Green List (high evidence)
RAC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 48, MIM# 617751
Tags
Green Green List (high evidence)
RAC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Tags
Green Green List (high evidence)
RTTN
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SCN3A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polymicrogyria
  • epileptic encephalopathy
Tags
Green Green List (high evidence)
SHMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121
  • Congenital microcephaly
  • Infantile axial hypotonia
  • Spastic paraparesis
  • Global developmental delay
  • Intellectual disability
  • Abnormality of the corpus callosum
  • Abnormal cortical gyration
  • Hypertrophic cardiomyopathy
  • Abnormality of the face
  • Proximal placement of thumb
  • 2-3 toe syndactyly
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Tags
Green Green List (high evidence)
TMX2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Tags
Green Green List (high evidence)
TUBA1A
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TUBB
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TUBB2B
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TUBB3
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR62
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
  • MONDO:0011435
Tags
Amber Amber List (moderate evidence)
AHI1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3, MIM# 608629
Tags
Amber Amber List (moderate evidence)
ASTN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria
  • hypoplastic corpus callosum
Tags
Amber Amber List (moderate evidence)
COL4A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brain small vessel disease 2, MIM#614483
Tags
Amber Amber List (moderate evidence)
EMX2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly MIM# 269160
Tags
  • disputed
Amber Amber List (moderate evidence)
FIG4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria with epilepsy MIM# 612691
Tags
Amber Amber List (moderate evidence)
L1CAM
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • L1CAM-related disease
Tags
Amber Amber List (moderate evidence)
MED25
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
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)
NHEJ1
1 review
 Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)
Tags
Amber Amber List (moderate evidence)
NSDHL
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CK syndrome 300831
Tags
Amber Amber List (moderate evidence)
PAX6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Coloboma of optic nerve MIM# 120430
  • ?Coloboma, ocular MIM# 120200
  • ?Morning glory disc anomaly MIM# 120430
  • Aniridia MIM# 106210
  • Anterior segment dysgenesis 5, multiple subtypes MIM# 604229
  • Cataract with late-onset corneal dystrophy MIM# 106210
  • Foveal hypoplasia 1 MIM# 136520
  • Keratitis MIM# 148190
  • Optic nerve hypoplasia MIM# 165550
Tags
Amber Amber List (moderate evidence)
PEX10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Tags
Amber Amber List (moderate evidence)
PEX12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Tags
Amber Amber List (moderate evidence)
PEX13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Tags
Amber Amber List (moderate evidence)
PEX14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Tags
Amber Amber List (moderate evidence)
PEX16
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Tags
Amber Amber List (moderate evidence)
PEX19
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Tags
Amber Amber List (moderate evidence)
PEX2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Tags
Amber Amber List (moderate evidence)
PEX26
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Tags
Amber Amber List (moderate evidence)
PEX3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Amber Amber List (moderate evidence)
PEX5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)
Tags
Amber Amber List (moderate evidence)
PI4KA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Tags
Amber Amber List (moderate evidence)
SMO
1 review
 Unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic MIM#601707
Tags
  • somatic
Red Red List (low evidence)
DAG1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Tags
Red Red List (low evidence)
ENO1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Polymicrogyria, MONDO:0000087, ENO1-related
Tags
Red Red List (low evidence)
EOMES
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, MONDO:0001149, EOMES-related
Tags
Red Red List (low evidence)
INTS8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Tags
Red Red List (low evidence)
MCF2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Perisylvian polymicrogyria
Tags
Red Red List (low evidence)
PEX11B
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Peroxisome biogenesis disorder 14B (MIM#614920)
Tags
Red Red List (low evidence)
SHH
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly (MIM#269160)
Tags
  • disputed
Red Red List (low evidence)
SIX3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SRD5A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Iq (MIM#612379)
Tags
Red Red List (low evidence)
SRPX2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Tags
Red Red List (low evidence)
TMEM216
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 2 (MIM#608091)
Tags
Red Red List (low evidence)
TUBA8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Tags

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