The latest signed off version for the GMS is v15.3. The current version, shown here, may differ from the signed-off version.

Cerebral malformation (Version 15.54)

Level 2: Neurology

Relevant disorders: Cerebral malformations, R87
This panel contains these 3 panels:
Malformations of cortical development v7.39
Holoprosencephaly - NOT chromosomal v5.11
Neurological segmental overgrowth v3.3
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Latest signed off version: v15.3 (30 Oct 2024)
Previously signed off versions: v13.2, v11.2, v10.1, v8.2, v5.17

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).

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 is comprised of:
- Holoprosencephaly - NOT chromosomal, version 5.1 (https://panelapp.genomicsengland.co.uk/api/v1/panels/78/?version=5.1)
- Malformations of cortical development, version 7.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/96/?version=7.0)
- Neurological segmental overgrowth, version 3.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/736/?version=3.0)

This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel.

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel '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.

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

179 Entities

175 reviewed, 137 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 179 Entitiess
Green List (high evidence)	ACTB Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert Review Phenotypes Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma) Tags
Green List (high evidence)	ACTG1 Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Phenotypes Baraitser Winter Syndrome Tags
Green List (high evidence)	ADGRG1 Malformations of cortical development v7.39	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 List (high evidence)	AKT1 Neurological segmental overgrowth v3.3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Proteus syndrome, somatic, OMIM:176920 Macrocephaly and Overgrowth Syndromes Segmental Overgrowth Syndrome Proteus syndrome Tags
Green List (high evidence)	AKT3 Neurological segmental overgrowth v3.3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Macrocephaly and Overgrowth Syndromes Tags mosaicism
Green List (high evidence)	AKT3 Malformations of cortical development v7.39	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags mosaicism
Green List (high evidence)	APC2 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 Tags
Green List (high evidence)	ARF1 Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Periventricular nodular heterotopia 8, OMIM:618185 Tags
Green List (high evidence)	ARFGEF2 Malformations of cortical development v7.39	1 review 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 Periventricular nodular heterotopia Tags
Green List (high evidence)	ARX Malformations of cortical development v7.39	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 List (high evidence)	ASPM Malformations of cortical development v7.39	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, OMIM:608716 Tags
Green List (high evidence)	ATP1A2 Malformations of cortical development v7.39	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, OMIM:619602 Tags
Green List (high evidence)	ATP1A3 Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Polymicrogyria, MONDO:0000087 epilepsy, MONDO:0005027 developmental delay Developmental and epileptic encephalopathy 99, OMIM:619606 Tags
Green List (high evidence)	B3GALNT2 Malformations of cortical development v7.39	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 List (high evidence)	B4GAT1 Malformations of cortical development v7.39	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green List (high evidence)	CASK Malformations of cortical development v7.39	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 List (high evidence)	CASP2 Malformations of cortical development v7.39	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653 Tags
Green List (high evidence)	CCND2 Neurological segmental overgrowth v3.3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938 Tags
Green List (high evidence)	CCND2 Malformations of cortical development v7.39	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 List (high evidence)	CDH2 Malformations of cortical development v7.39	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 List (high evidence)	CDK13 Malformations of cortical development v7.39	3 reviews 2 green 1 red	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 List (high evidence)	CDK5 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 Tags
Green List (high evidence)	CDON Holoprosencephaly - NOT chromosomal v5.11	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 List (high evidence)	CEP85L Malformations of cortical development v7.39	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 List (high evidence)	CNOT1 Holoprosencephaly - NOT chromosomal v5.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787 Tags
Green List (high evidence)	COL3A1 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Polymicrogyria with or without vascular-type EDS, OMIM:618343 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MONDO:0032688 Tags
Green List (high evidence)	COL4A1 Malformations of cortical development v7.39	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773 Brain small vessel disease with or without ocular anomalies, OMIM:175780 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 Tags
Green List (high evidence)	COL4A2 Malformations of cortical development v7.39	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Brain small vessel disease 2, OMIM:614483 {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 Tags
Green List (high evidence)	CRADD Malformations of cortical development v7.39	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 Tags
Green List (high evidence)	CSNK2A1 Malformations of cortical development v7.39	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 List (high evidence)	CTNNA2 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 Tags
Green List (high evidence)	DAG1 Malformations of cortical development v7.39	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 Tags
Green List (high evidence)	DCHS1 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Van Maldergem syndrome 1, OMIM:601390 Periventricular nodular heterotopia Tags
Green List (high evidence)	DCX Malformations of cortical development v7.39	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, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 Tags
Green List (high evidence)	DEPDC5 Malformations of cortical development v7.39	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Epilepsy, familial focal, with variable foci 1, OMIM:604364 Focal cortical dysplasia Tags
Green List (high evidence)	DHCR7 Holoprosencephaly - NOT chromosomal v5.11	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 List (high evidence)	DISP1 Holoprosencephaly - NOT chromosomal v5.11	11 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Holoprosencephaly 10, OMIM:621143 holoprosencephaly 10, MONDO:0976262 Tags
Green List (high evidence)	DPYSL5 Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Tags
Green List (high evidence)	DYNC1H1 Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Mental retardation, autosomal dominant 13 614563 Tags
Green List (high evidence)	EML1 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Band heterotopia, OMIM:600348 Tags
Green List (high evidence)	FGF8 Holoprosencephaly - NOT chromosomal v5.11	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Holoprosencephaly Tags
Green List (high evidence)	FGFR1 Holoprosencephaly - NOT chromosomal v5.11	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Review Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 Hartsfield syndrome, OMIM:615465 Tags Q1_26_MOI
Green List (high evidence)	FKRP Malformations of cortical development v7.39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert Review Phenotypes Muscle- eye- brain disease Warburg syndrome Tags
Green List (high evidence)	FKTN Malformations of cortical development v7.39	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Tags non-coding-known-pathogenic
Green List (high evidence)	FLNA Malformations of cortical development v7.39	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 List (high evidence)	GLI2 Holoprosencephaly - NOT chromosomal v5.11	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 UKGTN Other Phenotypes Holoprosencephaly-9 Holoprosencephaly Holoprosencephaly 9, 610829 Tags
Green List (high evidence)	GPSM2 Malformations of cortical development v7.39	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 List (high evidence)	GRIN1 Malformations of cortical development v7.39	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Tags
Green List (high evidence)	GRIN2B Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970 Tags
Green List (high evidence)	H3F3A Malformations of cortical development v7.39	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 List (high evidence)	HECTD4 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked
Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37430-Loss Region Malformations of cortical development v7.39	1 review	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 List (high evidence)	15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss ISCA-46300-Loss Region Malformations of cortical development v7.39	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Developmental delays/intellectual disability, brain anomalies, craniofacial abnormalities, hypermobile joints, digital findings, and other variable clinical features Tags
Green List (high evidence)	Xq25 region (includes STAG2) Loss ISCA-46743-Loss Region Holoprosencephaly - NOT chromosomal v5.11	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	ISPD Malformations of cortical development v7.39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Tags new-gene-name
Green List (high evidence)	KATNB1 Malformations of cortical development v7.39	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 Tags
Green List (high evidence)	KIF1BP Malformations of cortical development v7.39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Goldberg-Shprintzen megacolon syndrome 609460 Tags new-gene-name
Green List (high evidence)	KIF2A Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review UKGTN Radboud University Medical Center, Nijmegen Other Phenotypes Cortical dysplasia, complex, with other brain malformations 3 Tags
Green List (high evidence)	KIF5C Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review UKGTN Other Phenotypes Cortical dysplasia, complex, with other brain malformations 2 Tags
Green List (high evidence)	KMT2D Holoprosencephaly - NOT chromosomal v5.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kabuki syndrome 1, OMIM:147920 Tags
Green List (high evidence)	LAMA2 Malformations of cortical development v7.39	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855 Tags
Green List (high evidence)	LAMB1 Malformations of cortical development v7.39	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 List (high evidence)	LAMC3 Malformations of cortical development v7.39	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Other Phenotypes Cortical malformations, occipital, OMIM:614115 occipital pachygyria and polymicrogyria, MONDO:0013583 Tags
Green List (high evidence)	LARGE1 Malformations of cortical development v7.39	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert Review Phenotypes Muscle-eye-brain disease Tags
Green List (high evidence)	MACF1 Malformations of cortical development v7.39	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 List (high evidence)	MAP1B Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Periventricular nodular heterotopia 9, OMIM:618918 Tags
Green List (high evidence)	MAPK8IP3 Malformations of cortical development v7.39	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 Tags
Green List (high evidence)	MAX Neurological segmental overgrowth v3.3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Polydactyly-macrocephaly syndrome, OMIM:620712 Tags
Green List (high evidence)	MN1 Malformations of cortical development v7.39	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 List (high evidence)	MTOR Malformations of cortical development v7.39	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 List (high evidence)	NDE1 Malformations of cortical development v7.39	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 List (high evidence)	NEDD4L Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Periventricular nodular heterotopia 7 617201 Tags
Green List (high evidence)	NFIA Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Brain malformations with or without urinary tract defects, OMIM:613735 Tags
Green List (high evidence)	NPRL2 Malformations of cortical development v7.39	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Epilepsy, familial focal, with variable foci 2, OMIM:617116 Tags
Green List (high evidence)	NPRL3 Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Epilepsy, familial focal, with variable foci 3, OMIM:617118 Tags
Green List (high evidence)	NSRP1 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green List (high evidence)	OCLN Malformations of cortical development v7.39	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 List (high evidence)	OSGEP Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 3 617729 Tags
Green List (high evidence)	PAFAH1B1 Malformations of cortical development v7.39	3 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, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432 Tags
Green List (high evidence)	PEX1 Malformations of cortical development v7.39	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 List (high evidence)	PEX10 Malformations of cortical development v7.39	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 List (high evidence)	PEX11B Malformations of cortical development v7.39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B, 614920 Tags
Green List (high evidence)	PEX12 Malformations of cortical development v7.39	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 List (high evidence)	PEX13 Malformations of cortical development v7.39	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 List (high evidence)	PEX14 Malformations of cortical development v7.39	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 List (high evidence)	PEX16 Malformations of cortical development v7.39	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 List (high evidence)	PEX19 Malformations of cortical development v7.39	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 List (high evidence)	PEX2 Malformations of cortical development v7.39	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 List (high evidence)	PEX26 Malformations of cortical development v7.39	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 List (high evidence)	PEX3 Malformations of cortical development v7.39	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 List (high evidence)	PEX5 Malformations of cortical development v7.39	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 List (high evidence)	PEX6 Malformations of cortical development v7.39	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Literature Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green List (high evidence)	PI4KA Malformations of cortical development v7.39	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green List (high evidence)	PIDD1 Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual disability Pachygyria Lissencephaly Seizures Tags
Green List (high evidence)	PIK3CA Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Expert Review Phenotypes Polymicrogyria, hemimegalencephaly, macrocephaly Tags
Green List (high evidence)	PIK3CA Neurological segmental overgrowth v3.3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cowden syndrome 5, OMIM:615108 CLAPO syndrome, somatic, OMIM:613089 CLOVE syndrome, somatic, OMIM:612918 Macrodactyly, somatic, OMIM:155500 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 Tags mosaicism somatic
Green List (high evidence)	PIK3R2 Malformations of cortical development v7.39	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Green List (high evidence)	PIK3R2 Neurological segmental overgrowth v3.3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Green List (high evidence)	POMGNT1 Malformations of cortical development v7.39	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, 3 253280 Tags
Green List (high evidence)	POMGNT2 Malformations of cortical development v7.39	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 List (high evidence)	POMT1 Malformations of cortical development v7.39	2 reviews 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Type 2 lissencephaly Tags
Green List (high evidence)	POMT2 Malformations of cortical development v7.39	2 reviews 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Type 2 lissencephaly Tags
Green List (high evidence)	PPP1R12A Malformations of cortical development v7.39	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 List (high evidence)	PTCH1 Holoprosencephaly - NOT chromosomal v5.11	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, OMIM:610828 Tags
Green List (high evidence)	PTEN Neurological segmental overgrowth v3.3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cowden syndrome 1, OMIM:158350 Lhermitte-Duclos syndrome, OMIM:158350 Macrocephaly/autism syndrome, OMIM:605309 Tags
Green List (high evidence)	PTEN Malformations of cortical development v7.39	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list 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 List (high evidence)	RAB18 Malformations of cortical development v7.39	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Warburg micro syndrome 3, OMIM:614222 Tags
Green List (high evidence)	RAB3GAP1 Malformations of cortical development v7.39	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Warburg micro syndrome 1 OMIM:600118 Warburg micro syndrome 1 MONDO:0010822 Tags
Green List (high evidence)	RAB3GAP2 Malformations of cortical development v7.39	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Warburg micro syndrome 2, OMIM:614225 Warburg micro syndrome 2 MONDO:0013641 Tags
Green List (high evidence)	RAC3 Malformations of cortical development v7.39	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 Tags
Green List (high evidence)	RAD21 Holoprosencephaly - NOT chromosomal v5.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 Holoprosencephaly with or without CdLS features Septo-optic dysplasia Tags
Green List (high evidence)	RELN Malformations of cortical development v7.39	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 List (high evidence)	RTTN Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, short stature, and polymicrogyria with seizures 614833 Tags
Green List (high evidence)	SCN3A Malformations of cortical development v7.39	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Polymicrogyria, MONDO:0000087 malformations of cortical development epilepsy, MONDO:0005027 Developmental and epileptic encephalopathy 62, OMIM:617938 Tags
Green List (high evidence)	SHH Holoprosencephaly - NOT chromosomal v5.11	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-3 Holoprosencephaly Holoprosencephaly 3, 142945 Tags
Green List (high evidence)	SIX3 Holoprosencephaly - NOT chromosomal v5.11	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 List (high evidence)	SLC35A2 Malformations of cortical development v7.39	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 NHS GMS Expert Review Green Literature Phenotypes Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Congenital disorder of glycosylation, type IIm, OMIM:300896 Tags mosaicism somatic
Green List (high evidence)	SMC1A Holoprosencephaly - NOT chromosomal v5.11	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 Other Phenotypes Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Green List (high evidence)	SMO Malformations of cortical development v7.39	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 List (high evidence)	SNAP29 Malformations of cortical development v7.39	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 CEDNIK syndrome, MONDO:0012290 Tags
Green List (high evidence)	SOX11 Malformations of cortical development v7.39	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 List (high evidence)	STAG2 Holoprosencephaly - NOT chromosomal v5.11	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 Other Phenotypes Holoprosencephaly 13, X-linked OMIM:301043 Tags
Green List (high evidence)	TBC1D32 Malformations of cortical development v7.39	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Tags
Green List (high evidence)	TGIF1 Holoprosencephaly - NOT chromosomal v5.11	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 List (high evidence)	TMEM5 Malformations of cortical development v7.39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041 Tags new-gene-name
Green List (high evidence)	TMX2 Malformations of cortical development v7.39	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 List (high evidence)	TP73 Malformations of cortical development v7.39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 Tags
Green List (high evidence)	TUBA1A Malformations of cortical development v7.39	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 List (high evidence)	TUBB Malformations of cortical development v7.39	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 List (high evidence)	TUBB2A Malformations of cortical development v7.39	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Other Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green List (high evidence)	TUBB2B Malformations of cortical development v7.39	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 Tags
Green List (high evidence)	TUBB3 Malformations of cortical development v7.39	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Other Phenotypes Cortical dysplasia, complex, with other brain malformations 1 614039 Tags
Green List (high evidence)	TUBG1 Malformations of cortical development v7.39	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 List (high evidence)	TUBGCP2 Malformations of cortical development v7.39	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 List (high evidence)	VLDLR Malformations of cortical development v7.39	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM:224050 Tags
Green List (high evidence)	WDR62 Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 Tags
Green List (high evidence)	ZIC2 Holoprosencephaly - NOT chromosomal v5.11	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 List (moderate evidence)	ASTN1 Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	CCT3 Malformations of cortical development v7.39	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green
Amber List (moderate evidence)	CCT8 Malformations of cortical development v7.39	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CCT8-related neurodevelopmental disorder with brain abnormalities Tags
Amber List (moderate evidence)	DLL1 Holoprosencephaly - NOT chromosomal v5.11	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Literature Tags watchlist
Amber List (moderate evidence)	EMX2 Malformations of cortical development v7.39	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Other Phenotypes Schizencephaly, OMIM:269160 Tags
Amber List (moderate evidence)	FAT4 Malformations of cortical development v7.39	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Van Maldergem syndrome 2, OMIM:615546 Tags watchlist
Amber List (moderate evidence)	FIG4 Malformations of cortical development v7.39	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Polymicrogyria, bilateral temporooccipital OMIM:612691 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 Tags
Amber List (moderate evidence)	FSD1L Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	HS2ST1 Holoprosencephaly - NOT chromosomal v5.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist
Amber List (moderate evidence)	JKAMP Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	KIF26A Malformations of cortical development v7.39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332 Tags Q4_25_promote_green
Amber List (moderate evidence)	PLCH1 Holoprosencephaly - NOT chromosomal v5.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe developmental delay Brain malformations Holoprosencephaly spectrum Tags
Amber List (moderate evidence)	PPP1R12A Holoprosencephaly - NOT chromosomal v5.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Genitourinary and/or/brain malformation syndrome, 618820 Tags watchlist
Amber List (moderate evidence)	PPP2R1A Malformations of cortical development v7.39	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Houge-Janssens syndrome 2, OMIM:616362 Houge-Janssens syndrome 2, MONDO:0014605 Tags Q1_26_promote_green
Amber List (moderate evidence)	SUFU Holoprosencephaly - NOT chromosomal v5.11	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert Review Phenotypes Basal cell nevus syndrome, OMIM:109400 Tags watchlist
Amber List (moderate evidence)	TCP1 Malformations of cortical development v7.39	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 Tags Q1_26_promote_green
Amber List (moderate evidence)	TSC1 Malformations of cortical development v7.39	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 List (moderate evidence)	TUBA8 Malformations of cortical development v7.39	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polymicrogyria with optic nerve hypoplasia 613180 Tags watchlist
Amber List (moderate evidence)	VPS50 Malformations of cortical development v7.39	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 List (moderate evidence)	WNK3 Malformations of cortical development v7.39	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Prieto syndrome, OMIM:309610 Intellectual disability, MONDO:0001071 Tags watchlist
Amber List (moderate evidence)	ZNF865 Malformations of cortical development v7.39	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Red List (low evidence)	AKT2 Neurological segmental overgrowth v3.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 Tags
Red List (low evidence)	BAIAP2 Malformations of cortical development v7.39	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes developmental and epileptic encephalopathy, MONDO:0100620 classic lissencephaly, MONDO:0015146 Tags
Red List (low evidence)	DLGAP4 Malformations of cortical development v7.39	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red List (low evidence)	ENO1 Malformations of cortical development v7.39	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Polymicrogyria, MONDO:0000087 Tags
Red List (low evidence)	EOMES Malformations of cortical development v7.39	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes microcephaly syndrome Tags
Red List (low evidence)	ERMARD Malformations of cortical development v7.39	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN Phenotypes Periventricular nodular heterotopia 6 615544 Tags
Red List (low evidence)	FOXH1 Holoprosencephaly - NOT chromosomal v5.11	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red List (low evidence)	GCM2 Holoprosencephaly - NOT chromosomal v5.11	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 List (low evidence)	GMPPB Malformations of cortical development v7.39	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 List (low evidence)	HRAS Neurological segmental overgrowth v3.3	0 reviews	Not set	Sources Expert Review Red Phenotypes Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Hemimegalencephaly Tags
Red List (low evidence)	KRAS Neurological segmental overgrowth v3.3	0 reviews	Not set	Sources Expert Review Red Phenotypes Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Hemimegalencephaly Tags
Red List (low evidence)	MCF2 Malformations of cortical development v7.39	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 List (low evidence)	MTOR Neurological segmental overgrowth v3.3	1 review	Not set	Sources Expert Review Red Phenotypes Segmental Overgrowth Syndrome HME Hemimegalencephaly Tags
Red List (low evidence)	NODAL Holoprosencephaly - NOT chromosomal v5.11	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red List (low evidence)	NRAS Neurological segmental overgrowth v3.3	0 reviews	Not set	Sources Expert Review Red Phenotypes Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Hemimegalencephaly Tags
Red List (low evidence)	PEX11A Malformations of cortical development v7.39	1 review 1 red	Unknown	Sources Literature Phenotypes Zellweger syndrome peroxisome proliferation mild peroxisomal biogenesis defect Tags watchlist
Red List (low evidence)	PEX7 Malformations of cortical development v7.39	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Literature Phenotypes Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) Peroxisome biogenesis disorder 9B, 614879 Rhizomelic chondrodysplasia punctata, type 1, 215100 Tags
Red List (low evidence)	POMK Malformations of cortical development v7.39	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 List (low evidence)	SMAD2 Holoprosencephaly - NOT chromosomal v5.11	3 reviews 1 red	Unknown	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Unknown Tags
Red List (low evidence)	TBC1D7 Neurological segmental overgrowth v3.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 Tags
Red List (low evidence)	TSC2 Malformations of cortical development v7.39	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

2018-12-20 14:46 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Promoting to Version 1 to allow a super panel to be built.

Cerebral malformation (Version 15.54)

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3 reviews

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Phenotypes

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2 reviews

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Phenotypes

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1 review

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Phenotypes

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2 reviews