Description
This panel is a component of super panel 'Cerebral malformations'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

The content of this panel (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/96/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (25/02/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ian Berry (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Usha Kini (Oxford Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

106 Entities

105 reviewed, 66 green

List Entity Reviews Mode of inheritance Details
106 Entitiess
Green Green List (high evidence)
ACTB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
Tags
Green Green List (high evidence)
ACTG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Baraitser Winter Syndrome
Tags
Green Green List (high evidence)
ADGRG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Polymicrogyria, bilateral frontoparietal 606854
  • Polymicrogyria, bilateral perisylvian 615752
Tags
Green Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polymicrogyria, macrocephaly
Tags
  • mosaicism
Green Green List (high evidence)
ARFGEF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Periventricular nodular heterotopia
Tags
Green Green List (high evidence)
ARX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lissencephaly, X-Linked, 2 300215
  • Epileptic encephalopathy, early infantile, 1 308350
  • Hydranencephaly with abnormal genitalia 300215
  • Mental retardation, X-linked 29 and others 300419
  • Partington syndrome 309510
  • Proud syndrome 300004
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
ASPM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microcephaly 5, primary, autosomal recessive 608716
Tags
Green Green List (high evidence)
B3GALNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Tags
Green Green List (high evidence)
CCND2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Tags
Green Green List (high evidence)
CDK13
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
Tags
Green Green List (high evidence)
CSNK2A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 617062
Tags
Green Green List (high evidence)
DAG1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
Tags
Green Green List (high evidence)
DCX
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Lissencephaly, X-linked 300067
  • Subcortical laminal heteropia, X-linked 300067
  • Classic Lissencephaly/Subcortical Band Heterotopia
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 13 614563
Tags
Green Green List (high evidence)
EMX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Schizencephaly, 269160
Tags
Green Green List (high evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscle- eye- brain disease
  • Warburg syndrome
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Tags
  • non-coding-known-pathogenic
Green Green List (high evidence)
FLNA
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Periventricular Heterotopia 300049
  • Melnick-Needles syndrome 309350
  • Otopalatodigital syndrome, type I 311300
  • Otopalatodigital syndrome, type II 304120
Tags
  • x-linked-over-dominance
Green Green List (high evidence)
GPSM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chudley-McCullough syndrome 604213
Tags
Green Green List (high evidence)
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay
  • growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment
  • Chromosome 17p13.3 duplication syndrome
  • prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw
  • Characteristic facies, pre- and post-natal growth retardation
  • 247200
  • classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities
  • Miller-Dieker lissencephaly syndrome
Tags
Green Green List (high evidence)
ISPD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
Tags
  • new-gene-name
Green Green List (high evidence)
KATNB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Lissencephaly 6, with microcephaly 616212
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome 609460
Tags
  • new-gene-name
Green Green List (high evidence)
KIF2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3
Tags
Green Green List (high evidence)
KIF5C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2
Tags
Green Green List (high evidence)
LAMB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lissencephaly 5 615191
Tags
Green Green List (high evidence)
LAMC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cortical malformations, occipital 614115
Tags
Green Green List (high evidence)
LARGE1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscle-eye-brain disease
Tags
Green Green List (high evidence)
MACF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation, 618325
Tags
Green Green List (high evidence)
MTOR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
NDE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Lissencephaly 4 (with microcephaly) 614019
  • ?Microhydranencephaly 605013
Tags
Green Green List (high evidence)
NEDD4L
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Periventricular nodular heterotopia 7 617201
Tags
Green Green List (high evidence)
OCLN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria 251290
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 617729
Tags
Green Green List (high evidence)
PAFAH1B1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
Phenotypes
  • Lissencephaly 1 607432
  • Subcortical laminar heterotopia 607432
Tags
Green Green List (high evidence)
PEX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Tags
Green Green List (high evidence)
PEX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
  • Peroxisome biogenesis disorder 6B, 614871
Tags
Green Green List (high evidence)
PEX11B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920
Tags
Green Green List (high evidence)
PEX12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Peroxisome biogenesis disorder 3B, 266510
Tags
Green Green List (high evidence)
PEX13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 11A (Zellweger),614883
Tags
Green Green List (high evidence)
PEX14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 13A (Zellweger), 614887
Tags
Green Green List (high evidence)
PEX16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Tags
Green Green List (high evidence)
PEX19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
Tags
Green Green List (high evidence)
PEX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
Tags
Green Green List (high evidence)
PEX26
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 7A (Zellweger), 61487
  • Peroxisome biogenesis disorder 7B, 614873
Tags
Green Green List (high evidence)
PEX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 10A (Zellweger), 614882
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 2A (Zellweger), 214110
  • Peroxisome biogenesis disorder 2B, 202370
Tags
Green Green List (high evidence)
PEX6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Peroxisome biogenesis disorder 4B, 614863
Tags
Green Green List (high evidence)
PEX7
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
  • Peroxisome biogenesis disorder 9B, 614879
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • UKGTN
Phenotypes
  • Polymicrogyria, hemimegalencephaly, macrocephaly
Tags
Green Green List (high evidence)
PIK3R2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Tags
Green Green List (high evidence)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
  • Type 2 lissencephaly
Tags
Green Green List (high evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Type 2 lissencephaly
Tags
Green Green List (high evidence)
RELN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type) 257320
  • Type 2 lissencephaly and cerebellar hypoplasia
Tags
Green Green List (high evidence)
RTTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures 614833
Tags
Green Green List (high evidence)
SMO
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
TMEM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041
Tags
  • new-gene-name
Green Green List (high evidence)
TUBA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Lissencephaly 3 611603
Tags
Green Green List (high evidence)
TUBB
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
Tags
Green Green List (high evidence)
TUBB2A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5 615763
Tags
Green Green List (high evidence)
TUBB2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polymicrogyria, symmetric or asymmetric 610031
Tags
Green Green List (high evidence)
TUBB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1 614039
Tags
Green Green List (high evidence)
TUBG1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4 615412
Tags
Green Green List (high evidence)
WDR62
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 604317
Tags
Amber Amber List (moderate evidence)
MN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CEBALID syndrome, 618774
Tags
  • for-review
Amber Amber List (moderate evidence)
PPP1R12A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Genitourinary and/or/brain malformation syndrome, 618820
Tags
  • for-review
Amber Amber List (moderate evidence)
TMX2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730
Tags
  • for-review
Amber Amber List (moderate evidence)
TSC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic
Amber Amber List (moderate evidence)
TUBA8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia 613180
Tags
  • watchlist
Amber Amber List (moderate evidence)
TUBGCP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737
Tags
  • for-review
Red Red List (low evidence)
B4GAT1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
Tags
Red Red List (low evidence)
EOMES
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • microcephaly syndrome
Tags
Red Red List (low evidence)
ERMARD
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Periventricular nodular heterotopia 6 615544
Tags
Red Red List (low evidence)
GMPPB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Tags
Red Red List (low evidence)
PEX11A
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Zellweger syndrome
  • peroxisome proliferation
  • mild peroxisomal biogenesis defect
Tags
  • watchlist
Red Red List (low evidence)
POMK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Tags
Red Red List (low evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic
No list No list
APC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Tags
No list No list
ARF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, MIM# 618185
Tags
No list No list
ATP1A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • hydrops fetalis
  • microcephaly
  • arthrogryposis
  • extensive cortical malformations
Tags
No list No list
CEP85L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Lissencephaly, posterior predominant
Tags
No list No list
CRADD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Tags
No list No list
CTNNA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Tags
No list No list
DCHS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Van Maldergem syndrome 1 (MIM#601390)
Tags
No list No list
DEPDC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Epilepsy, familial focal, with variable foci 1 (MIM#604364)
Tags
No list No list
EML1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Band heterotopia (MIM# 600348)
Tags
No list No list
FAT4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Van Maldergem syndrome 2, MIM# 615546
Tags
No list No list
FIG4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Polymicrogyria with epilepsy MIM# 612691
Tags
No list No list
GRIN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254
Tags
No list No list
GRIN2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 6, MIM# 613970
Tags
No list No list
LAMA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Tags
No list No list
MAP1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 9, MIM# 618918
Tags
No list No list
MAPK8IP3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Tags
No list No list
MCF2
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Perisylvian polymicrogyria
Tags
No list No list
NPRL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Epilepsy, familial focal, with variable foci 2, MIM# 617116
Tags
No list No list
NPRL3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Epilepsy, familial focal, with variable foci 3 (MIM#617118)
Tags
No list No list
PI4KA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Tags
No list No list
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome 158350
  • Macrocephaly/autism syndrome 605309
Tags
No list No list
RAB18
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Warburg micro syndrome 3, MIM# 614222
Tags
No list No list
RAB3GAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118
Tags
No list No list
RAB3GAP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Warburg micro syndrome 2, MIM# 614225
Tags
No list No list
SCN3A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Polymicrogyria
  • malformations of cortical development
  • epilepsy
Tags
No list No list
SNAP29
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Tags
No list No list
VLDLR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)
Tags

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