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 gene panel version 4.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/78/?version=4.0)
- Malformations of cortical development version 4.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/96/?version=4.0)
- Neurological segmental overgrowth version 2.6 (https://panelapp.genomicsengland.co.uk/api/v1/panels/736/?version=2.6)

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

162 Entities

158 reviewed, 127 green

List Entity Reviews Mode of inheritance Details
162 Entitiess
Green Green List (high evidence)
ACTB
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 Green List (high evidence)
ACTG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
Phenotypes
  • Baraitser Winter Syndrome
Tags
Green Green List (high evidence)
ADGRG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Polymicrogyria, bilateral frontoparietal 606854
  • Polymicrogyria, bilateral perisylvian 615752
Tags
Green Green List (high evidence)
AKT1
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 Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
  • mosaicism
Green Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
  • Macrocephaly and Overgrowth Syndromes
Tags
  • mosaicism
Green Green List (high evidence)
APC2
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 Green List (high evidence)
ARF1
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 Green List (high evidence)
ARFGEF2
1 review
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
  • 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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, OMIM:608716
Tags
Green Green List (high evidence)
ATP1A2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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
  • NHS GMS
  • Expert Review Green
  • Literature
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Tags
Green Green List (high evidence)
B4GAT1
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 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)
CCND2
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 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 Green
  • Expert Review
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
Tags
Green Green List (high evidence)
CDON
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 11, 614226
  • Holoprosencephaly
Tags
Green Green List (high evidence)
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)
CNOT1
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 Green List (high evidence)
CRADD
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 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
  • NHS GMS
  • Expert Review Green
  • Expert list
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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
  • NHS GMS
  • Expert Review Green
  • Expert list
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
  • 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 Green List (high evidence)
DEPDC5
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 Green List (high evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • alobar holoprosencephaly (HPE)
Tags
Green Green List (high evidence)
DISP1
7 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • holoprosencephaly MONDO:0016296
Tags
  • gene-checked
  • to_be_confirmed_NHSE
Green Green List (high evidence)
DPYSL5
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 Green List (high evidence)
DYNC1H1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review
Phenotypes
  • Mental retardation, autosomal dominant 13 614563
Tags
Green Green List (high evidence)
EML1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green Green List (high evidence)
FGF8
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly
Tags
Green Green List (high evidence)
FGFR1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hartsfield syndrome, 615465
Tags
Green Green List (high evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
Phenotypes
  • Muscle- eye- brain disease
  • Warburg syndrome
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • 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)
GLI2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-9
  • Holoprosencephaly
  • Holoprosencephaly 9, 610829
Tags
Green Green List (high evidence)
GPSM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chudley-McCullough syndrome 604213
Tags
Green Green List (high evidence)
GRIN1
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 Green List (high evidence)
GRIN2B
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 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
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay
  • growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment
  • Chromosome 17p13.3 duplication syndrome
  • prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw
  • Characteristic facies, pre- and post-natal growth retardation
  • 247200
  • classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities
  • Miller-Dieker lissencephaly syndrome
Tags
Green Green List (high evidence)
ISPD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
Tags
  • new-gene-name
Green Green List (high evidence)
KATNB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome 609460
Tags
  • new-gene-name
Green Green List (high evidence)
KIF2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3
Tags
Green Green List (high evidence)
KIF5C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • UKGTN
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2
Tags
Green Green List (high evidence)
KMT2D
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kabuki syndrome 1, OMIM:147920
Tags
Green Green List (high evidence)
LAMA2
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 Green List (high evidence)
LAMB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Lissencephaly 5 615191
Tags
Green Green List (high evidence)
LAMC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Cortical malformations, occipital 614115
Tags
Green Green List (high evidence)
LARGE1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • Muscle-eye-brain disease
Tags
Green Green List (high evidence)
MACF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation, 618325
Tags
Green Green List (high evidence)
MAP1B
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 Green List (high evidence)
MAPK8IP3
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 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 Green
  • Expert Review
Phenotypes
  • Periventricular nodular heterotopia 7 617201
Tags
Green Green List (high evidence)
NPRL2
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 Green List (high evidence)
NPRL3
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 Green List (high evidence)
NSRP1
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 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
  • 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 Green List (high evidence)
PEX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Tags
Green Green List (high evidence)
PEX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
  • Peroxisome biogenesis disorder 6B, 614871
Tags
Green Green List (high evidence)
PEX11B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920
Tags
Green Green List (high evidence)
PEX12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Peroxisome biogenesis disorder 3B, 266510
Tags
Green Green List (high evidence)
PEX13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 11A (Zellweger),614883
Tags
Green Green List (high evidence)
PEX14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 13A (Zellweger), 614887
Tags
Green Green List (high evidence)
PEX16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Tags
Green Green List (high evidence)
PEX19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
Tags
Green Green List (high evidence)
PEX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
Tags
Green Green List (high evidence)
PEX26
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 7A (Zellweger), 61487
  • Peroxisome biogenesis disorder 7B, 614873
Tags
Green Green List (high evidence)
PEX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 10A (Zellweger), 614882
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Disorders of peroxisome biogenesis
  • Peroxisome biogenesis disorder 2A (Zellweger), 214110
  • Peroxisome biogenesis disorder 2B, 202370
Tags
Green Green List (high evidence)
PEX6
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 Green List (high evidence)
PI4KA
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 Green List (high evidence)
PIDD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
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 Green
  • UKGTN
  • Expert Review
Phenotypes
  • Polymicrogyria, hemimegalencephaly, macrocephaly
Tags
Green Green List (high evidence)
PIK3CA
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
Green Green List (high evidence)
PIK3R2
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 603387
Tags
Green Green List (high evidence)
PIK3R2
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 Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Tags
Green Green List (high evidence)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
  • Type 2 lissencephaly
Tags
Green Green List (high evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Type 2 lissencephaly
Tags
Green Green List (high evidence)
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)
PTCH1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly 7, OMIM:610828
Tags
Green Green List (high evidence)
PTEN
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 Green List (high evidence)
PTEN
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 Green List (high evidence)
RAB18
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 Green List (high evidence)
RAB3GAP1
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 Green List (high evidence)
RAB3GAP2
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 Green List (high evidence)
RAC3
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 Green List (high evidence)
RAD21
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 Green List (high evidence)
RELN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type) 257320
  • Type 2 lissencephaly and cerebellar hypoplasia
Tags
Green Green List (high evidence)
RTTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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
  • 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 Green List (high evidence)
SHH
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-3
  • Holoprosencephaly
  • Holoprosencephaly 3, 142945
Tags
Green Green List (high evidence)
SIX3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-2
  • Holoprosencephaly
  • Holoprosencephaly 2, 157170
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
  • 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 Green List (high evidence)
SMC1A
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 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 Review Green
  • Expert list
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)
STAG2
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 Green List (high evidence)
TBC1D32
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Orofaciodigital syndrome, MONDO:0015375
Tags
  • gene-checked
Green Green List (high evidence)
TGIF1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-4
  • Holoprosencephaly
  • Holoprosencephaly 4, 142946
Tags
Green Green List (high evidence)
TMEM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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
  • NHS GMS
  • Expert Review Green
  • Expert list
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
  • UKGTN
  • Other
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
  • 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 Green List (high evidence)
TUBB2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
  • 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 Green List (high evidence)
TUBG1
1 review
1 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 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 Review Green
  • Expert list
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
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Tags
Green Green List (high evidence)
ZIC2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-5
  • Holoprosencephaly
  • Holoprosencephaly 5, 609637
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)
COL4A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • 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
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
COL4A2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brain small vessel disease 2, OMIM:614483
  • {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
DLL1
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Tags
  • watchlist
Amber Amber List (moderate evidence)
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 Review Amber
  • Expert list
Phenotypes
  • Van Maldergem syndrome 2, OMIM:615546
Tags
  • watchlist
Amber Amber List (moderate evidence)
FIG4
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 Amber List (moderate evidence)
HECTD4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
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)
HS2ST1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
Tags
  • watchlist
Amber Amber List (moderate evidence)
PLCH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe developmental delay
  • Brain malformations
  • Holoprosencephaly spectrum
Tags
Amber Amber List (moderate evidence)
PPP1R12A
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 Amber List (moderate evidence)
SUFU
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
Tags
  • watchlist
Amber Amber List (moderate evidence)
TSC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic
Amber Amber List (moderate evidence)
TUBA8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia 613180
Tags
  • watchlist
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)
AKT2
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 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)
FOXH1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
GCM2
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Other
  • UKGTN
Phenotypes
  • Hypoparathyroidism, familial isolated (AD)
Tags
Red Red List (low evidence)
GMPPB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Tags
Red Red List (low evidence)
HRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
KRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
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)
MTOR
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Segmental Overgrowth Syndrome
  • HME
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
NODAL
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
NRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
PEX11A
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Zellweger syndrome
  • peroxisome proliferation
  • mild peroxisomal biogenesis defect
Tags
  • watchlist
Red Red List (low evidence)
PEX7
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 Red List (low evidence)
POMK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Tags
Red Red List (low evidence)
SMAD2
3 reviews
1 red
Unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Unknown
Tags
Red Red List (low evidence)
TBC1D7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Tags
Red Red List (low evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic

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