Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R87 Cerebral malformation' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R87 Cerebral malformation'.

This panel is a super panel composed of constituent panels: 'Malformations of cortical development', ‘Neurological segmental overgrowth’ & ‘Holoprosencephaly’ for the clinical indication 'R87 Cerebral malformation'. Changes made to this panel will automatically be updated in the relevant constituent panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

One or more of the constituent panels of this super 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

105 Entities

100 reviewed, 83 green

List Entity Reviews Mode of inheritance Details
105 Entitiess
Green Green List (high evidence)
ACTB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
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)
AKT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Proteus syndrome, 176920
  • Proteus syndrome, somatic,176920
  • Macrocephaly and Overgrowth Syndromes
  • Segmental Overgrowth Syndrome
  • Proteus syndrome
Tags
Green Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
  • Macrocephaly and Overgrowth Syndromes
  • MPPH2
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Tags
Green Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Polymicrogyria, macrocephaly
Tags
  • mosaicism
Green Green List (high evidence)
ARFGEF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 5, primary, autosomal recessive 608716
Tags
Green Green List (high evidence)
B3GALNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Tags
Green Green List (high evidence)
CCND2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
  • MPPH3
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
Tags
Green Green List (high evidence)
CCND2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Literature
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Tags
Green Green List (high evidence)
CDK13
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
Tags
Green Green List (high evidence)
CDON
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 11, 614226
  • Holoprosencephaly
Tags
Green Green List (high evidence)
CSNK2A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 617062
Tags
Green Green List (high evidence)
DAG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Other
Phenotypes
  • Lissencephaly, X-linked 300067
  • Subcortical laminal heteropia, X-linked 300067
  • Classic Lissencephaly/Subcortical Band Heterotopia
Tags
Green Green List (high evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • alobar holoprosencephaly (HPE)
Tags
Green Green List (high evidence)
DISP1
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
Phenotypes
  • Mental retardation, autosomal dominant 13 614563
Tags
Green Green List (high evidence)
EMX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Schizencephaly, 269160
Tags
Green Green List (high evidence)
FGF8
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly
Tags
Green Green List (high evidence)
FGFR1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hartsfield syndrome, 615465
Tags
Green Green List (high evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
Phenotypes
  • Muscle- eye- brain disease
  • Warburg syndrome
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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)
GLI2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-9
  • Holoprosencephaly
  • Holoprosencephaly 9, 610829
Tags
Green Green List (high evidence)
GPSM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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
  • Expert Review Green
  • ClinGen
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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 Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Other
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 Green
  • UKGTN
  • Expert Review
  • Other
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 Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Lissencephaly 5 615191
Tags
Green Green List (high evidence)
LAMC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Cortical malformations, occipital 614115
Tags
Green Green List (high evidence)
LARGE1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review
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 Green
  • Expert Review
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Lissencephaly 1 607432
  • Subcortical laminar heterotopia 607432
Tags
Green Green List (high evidence)
PEX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
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
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Peroxisome biogenesis disorder 4B, 614863
Tags
Green Green List (high evidence)
PEX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 Green
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501
  • CLOVE syndrome
  • CLOVES
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918
  • Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome
  • CLOVES syndrome
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome
  • macrocephaly-capillary malformation (MCM) syndrome
  • Megalencephaly-Capillary malformation syndrome
  • Macrocephaly and Overgrowth Syndromes
  • MCAP
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Expert Review
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 Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Green Green List (high evidence)
PIK3R2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • MPPH1
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1
  • Macrocephaly and Overgrowth Syndromes
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Type 2 lissencephaly
Tags
Green Green List (high evidence)
PTCH1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-7
  • Holoprosencephaly
  • Holoprosencephaly 7, 610828
Tags
Green Green List (high evidence)
PTEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • hemihypertrophy
  • Bannayan Riley Ruvalcalba Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Proteus-like syndrome
  • macrocephaly
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • BRRS
  • Bannayan-Riley-Ruvalcaba syndrome,153480
  • megalencephaly
  • PTEN Hamartoma Tumor Syndrome
  • Macrocephaly and Overgrowth Syndromes
  • PHTS
  • Cowden syndrome
Tags
Green Green List (high evidence)
RELN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures 614833
Tags
Green Green List (high evidence)
SHH
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-3
  • Holoprosencephaly
  • Holoprosencephaly 3, 142945
Tags
Green Green List (high evidence)
SIX3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-2
  • Holoprosencephaly
  • Holoprosencephaly 2, 157170
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)
TGIF1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-4
  • Holoprosencephaly
  • Holoprosencephaly 4, 142946
Tags
Green Green List (high evidence)
TMEM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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
  • UKGTN
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
Tags
Green Green List (high evidence)
TUBB2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
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
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 604317
Tags
Green Green List (high evidence)
ZIC2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-5
  • Holoprosencephaly
  • Holoprosencephaly 5, 609637
Tags
Amber Amber List (moderate evidence)
CNOT1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
  • pancreatic agenesis and holoprosencephaly syndrome
Tags
  • watchlist
Amber Amber List (moderate evidence)
DLL1
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Tags
  • watchlist
Amber Amber List (moderate evidence)
SUFU
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Basal cell nevus syndrome, 109400
Tags
  • watchlist
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
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia 613180
Tags
  • watchlist
Red Red List (low evidence)
AKT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • HIHGHH
  • Hypoinsulinemic hypoglycemia with hemihypertrophy
  • Hypoinsulinemic hypoglycemia with hemihypertrophy,240900
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Tags
Red Red List (low evidence)
B4GAT1
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, 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)
FOXH1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
GCM2
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Other
  • UKGTN
Phenotypes
  • Hypoparathyroidism, familial isolated (AD)
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)
HRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
KRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
MTOR
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Segmental Overgrowth Syndrome
  • HME
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
NODAL
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
NRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
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)
SMAD2
3 reviews
1 red
Unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Unknown
Tags
Red Red List (low evidence)
TBC1D7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MGCPH
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
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

Major version comments

Downloads

Download lists

Download Version