Malformations of cortical development (Version 4.12)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

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

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number.

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Challis (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

125 Entities

125 reviewed, 105 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 125 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 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags mosaicism
Green Green List (high evidence)	APC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 Tags
Green Green List (high evidence)	ARF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Periventricular nodular heterotopia 8, OMIM:618185 Tags
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)	ATP1A2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes hydrops fetalis microcephaly arthrogryposis extensive cortical malformations Tags
Green Green List (high evidence)	ATP1A3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Polymicrogyria, MONDO:0000087 epilepsy, MONDO:0005027 developmental delay Developmental and epileptic encephalopathy 99, OMIM:619606 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)	B4GAT1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green Green List (high evidence)	CASK	2 reviews 2 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 NHS GMS Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749 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)	CDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 Tags
Green Green List (high evidence)	CDK13	3 reviews 2 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)	CEP85L	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lissencephaly 10, OMIM:618873 Lissencephaly 10, MONDO:0030031 Tags gene-checked
Green Green List (high evidence)	CRADD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 Tags
Green Green List (high evidence)	CSNK2A1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 Tags
Green Green List (high evidence)	CTNNA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 Tags
Green Green List (high evidence)	DAG1	5 reviews 1 green 2 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)	DCHS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Van Maldergem syndrome 1, OMIM:601390 Periventricular nodular heterotopia 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, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 Tags
Green Green List (high evidence)	DEPDC5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, familial focal, with variable foci 1, OMIM:604364 Focal cortical dysplasia Tags
Green Green List (high evidence)	DPYSL5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities 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)	EML1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Band heterotopia, OMIM:600348 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 Heterotopia, periventricular, 1, OMIM:300049 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)	GRIN1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Tags
Green Green List (high evidence)	GRIN2B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970 Tags
Green Green List (high evidence)	H3F3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37430-Loss Region	1 review	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, OMIM:616212, MONDO:0014534 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)	LAMA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855 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)	MAP1B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Periventricular nodular heterotopia 9, OMIM:618918 Tags
Green Green List (high evidence)	MAPK8IP3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 Tags
Green Green List (high evidence)	MN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes CEBALID syndrome, OMIM:618774 CEBALID syndrome, MONDO:0032908 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)	NPRL2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, familial focal, with variable foci 2, OMIM:617116 Tags
Green Green List (high evidence)	NPRL3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, familial focal, with variable foci 3, OMIM:617118 Tags
Green Green List (high evidence)	NSRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly 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	3 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, OMIM:607432 Subcortical laminar heterotopia, OMIM: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	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green Green List (high evidence)	PI4KA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green Green List (high evidence)	PIDD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual disability Pachygyria Lissencephaly Seizures 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)	PPP1R12A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Genitourinary and/or/brain malformation syndrome, OMIM:618820 Tags
Green Green List (high evidence)	PTEN	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Cowden syndrome 1 OMIM:158350 Lhermitte-Duclos syndrome OMIM:158350 Cowden syndrome 1 MONDO:0008021 Macrocephaly/autism syndrome OMIM:605309 macrocephaly-autism syndrome MONDO:0011537 Tags
Green Green List (high evidence)	RAB18	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Warburg micro syndrome 3, OMIM:614222 Tags
Green Green List (high evidence)	RAB3GAP1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Warburg micro syndrome 1 OMIM:600118 Warburg micro syndrome 1 MONDO:0010822 Tags
Green Green List (high evidence)	RAB3GAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Warburg micro syndrome 2, OMIM:614225 Warburg micro syndrome 2 MONDO:0013641 Tags
Green Green List (high evidence)	RAC3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 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)	SCN3A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Polymicrogyria, MONDO:0000087 malformations of cortical development epilepsy, MONDO:0005027 Developmental and epileptic encephalopathy 62, OMIM:617938 Tags
Green Green List (high evidence)	SLC35A2	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 Literature NHS GMS Phenotypes Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Congenital disorder of glycosylation, type IIm, OMIM:300896 Tags mosaicism somatic
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)	SNAP29	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 CEDNIK syndrome, MONDO:0012290 Tags
Green Green List (high evidence)	SOX11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Coffin-Siris syndrome 9, OMIM:615866 Tags
Green Green List (high evidence)	TBC1D32	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome, MONDO:0015375 Tags gene-checked
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)	TMX2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Tags
Green Green List (high evidence)	TP73	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 Tags
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, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 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 Cortical dysplasia, complex, with other brain malformations 7, OMIM: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)	TUBGCP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 Tags gene-checked
Green Green List (high evidence)	VLDLR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM:224050 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)	CASP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 hereditary cerebral malformation, MONDO:0957008 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	EMX2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Other Phenotypes Schizencephaly, OMIM:269160 Tags
Amber Amber List (moderate evidence)	FAT4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Van Maldergem syndrome 2, OMIM:615546 Tags watchlist
Amber Amber List (moderate evidence)	FIG4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Polymicrogyria, bilateral temporooccipital OMIM:612691 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 Tags
Amber Amber List (moderate evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked Q4_23_promote_green
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)	VPS50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber Amber List (moderate evidence)	WNK3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags gene-checked watchlist
Red Red List (low evidence)	ENO1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Polymicrogyria, MONDO:0000087 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)	MCF2	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Perisylvian polymicrogyria bilateral perisylvian polymicrogyria, MONDO:0020340 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)	PEX7	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) Peroxisome biogenesis disorder 9B, 614879 Rhizomelic chondrodysplasia punctata, type 1, 215100 Tags
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	COL4A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Malformations of cortical development Schizencephaly porencephaly polymicrogyria focal cortical dysplasia nodular heterotopia Tags
No list No list	COL4A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Malformations of cortical development Schizencephaly porencephaly polymicrogyria focal cortical dysplasia nodular heterotopia Tags

Major version comments

2023-03-22 16:23 Eleanor Williams (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:36 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-11 15:38 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.171) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Promoted to Version 1 on 22nd November 2016

Malformations of cortical development (Version 4.12)

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