Severe microcephaly (Version 4.67)

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

Description

This panel is 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 'R88 Severe microcephaly' 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 'R88 Severe microcephaly'.

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

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

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

The Expert list for this panel was provided by Professor Andrew Jackson, University of Edinburgh.

Panel Activity

30 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Sanger)

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

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
emma baple (South West GMC)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
emma baple (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Konstantinos Varvagiannis (Other)

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

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

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Ronnie Wright (North West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Aleš Maver (Clinical Institute of Medical Genetics)

Group: Other
Workplace: Other diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Gavin Ryan (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sebastian Lunke (Victorian Clinical Genetics Services)

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

Group: Other
Workplace: Other
Mike Spiller (Sheffield Children's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Group: Other NHS organisation
Workplace: Other diagnostic lab

270 Entities

270 reviewed, 188 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 270 Entitiess
Green Green List (high evidence)	AARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Green Green List (high evidence)	ADARB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, OMIM:618862 Tags
Green Green List (high evidence)	ANKLE2	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly 16, primary, autosomal recessive, OMIM:616681 Microcephaly 16, primary, autosomal recessive, MONDO:0014730 Tags
Green Green List (high evidence)	AP4E1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Green Green List (high evidence)	ARPC4	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental delay, language impairment, and ocular abnormalities, OMIM:620141 microcephaly, MONDO:0001149 Tags
Green Green List (high evidence)	ASPM	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN 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 list Expert Review Green Phenotypes hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations Tags
Green Green List (high evidence)	ATP6V0A1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes ATP6V0A1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ATR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes MPD microcephalic primordial dwarfism Seckel syndrome 1, 210600 MICROCEPHALIC PRIMORDIAL DWARFISM I Tags
Green Green List (high evidence)	ATRX	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 NHS GMS Other Phenotypes Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly) Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly) Tags
Green Green List (high evidence)	BLM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Bloom syndrome, OMIM:210900 Tags
Green Green List (high evidence)	BPTF	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 Tags
Green Green List (high evidence)	BRCA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Green Green List (high evidence)	BRIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Green Green List (high evidence)	BUB1B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300 Tags
Green Green List (high evidence)	CAMK2B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 54, OMIM:617799 Tags
Green Green List (high evidence)	CASK	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes CASK-related XLID severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 MICPCH Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749 Tags
Green Green List (high evidence)	CCND2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Microcephaly, MONDO:0001149 Tags
Green Green List (high evidence)	CDK5RAP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MCPH primary microcephaly Primary Microcephaly, Recessive Microcephaly 3, primary, autosomal recessive, 604804 Microcephaly 3, Primary, Autosomal Recessive Tags
Green Green List (high evidence)	CDT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism Meier-Gorlin syndrome 4, 613804 Tags
Green Green List (high evidence)	CENPF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism Stromme syndrome, 243605 Microcephaly Tags
Green Green List (high evidence)	CENPJ	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MCPH primary microcephaly Primary Microcephaly, Recessive Microcephaly 6, primary, autosomal recessive, 608393 ?Seckel syndrome 4, 613676 Microcephaly microcephaly primary type 6 (MCPH6), 608393 Tags
Green Green List (high evidence)	CEP135	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Other UKGTN Phenotypes MCPH primary microcephaly Autosomal recessive primary microcephaly (MCPH) ?Microcephaly 8, primary, autosomal recessive, 614673 Primary Microcephaly and Disturbed Centrosomal Function, 614673 Tags
Green Green List (high evidence)	CEP152	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MCPH primary microcephaly Primary Microcephaly, Recessive Microcephaly 9, primary, autosomal recessive, 614852 Seckel syndrome 5, 613823 microcephaly primary type 4 (MCPH4), 604321 Tags
Green Green List (high evidence)	CEP55	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes microcephaly, speech delays, and bilateral toe syndactyly Tags
Green Green List (high evidence)	CEP57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mosaic variegated aneuploidy syndrome 2, OMIM:614114 Tags
Green Green List (high evidence)	CHAMP1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal dominant 40, OMIM:616579 Tags
Green Green List (high evidence)	CHKA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature Tags
Green Green List (high evidence)	CIT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes autosomal-recessive primary microcephaly MCPH Microcephaly 17, primary, autosomal recessive, 617090 Tags
Green Green List (high evidence)	CKAP2L	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION Filippi syndrome, 272440 Tags
Green Green List (high evidence)	COASY	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643 Tags
Green Green List (high evidence)	CREBBP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Rubinstein-Taybi syndrome, 180849 (microcephaly) Tags
Green Green List (high evidence)	CSNK2A1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 Tags
Green Green List (high evidence)	CTCF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal dominant 21, OMIM:615502 Tags
Green Green List (high evidence)	CTNNB1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 Tags
Green Green List (high evidence)	CTU2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 Tags
Green Green List (high evidence)	DDX11	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Warsaw breakage syndrome 613398 Tags
Green Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DIAPH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes microcephaly, blindness and early onset seizures severe visual impairment, intellectual disability, and short stature Seizures, cortical blindness, microcephaly syndrome, 616632 Tags
Green Green List (high evidence)	DNA2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Seckel syndrome 8, OMIM:615807 Microcephalic primordial dwarfism, MONDO:0017950 Tags
Green Green List (high evidence)	DNMT3A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Heyn-Sproul-Jackson syndrome OMIM:618724 MONDO:0032882 Tags
Green Green List (high evidence)	DOHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 Tags
Green Green List (high evidence)	DONSON	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly, short stature, and limb abnormalities 617604 Microcephaly-micromelia syndrome 251230 Tags
Green Green List (high evidence)	DPM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags
Green Green List (high evidence)	DPP6	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes MCPH primary microcephaly autosomal dominant microcephaly and mental retardation Mental retardation, autosomal dominant 33, 616311 Tags deletions to_be_confirmed_NHSE
Green Green List (high evidence)	DROSHA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Seizures Cerebral white matter atrophy Abnormality of the corpus callosum Abnormality of movement Stereotypic behavior Abnormality of head or neck Short foot Tags gene-checked locus-type-rna-micro
Green Green List (high evidence)	DYNC1I2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492 Tags
Green Green List (high evidence)	DYRK1A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes microcephaly Mental retardation, autosomal dominant 7, 614104 Tags deletions
Green Green List (high evidence)	EFTUD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 Tags
Green Green List (high evidence)	EIF2S3	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes MEHMO syndrome, OMIM:300148 Tags
Green Green List (high evidence)	EIF5A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Faundes-Banka syndrome, OMIM:619376 Tags
Green Green List (high evidence)	ERCC4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Fanconi anemia, complementation group Q, 61527 Tags
Green Green List (high evidence)	ERCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Cockayne syndrome, type B, 133540 (Microcephaly) Tags
Green Green List (high evidence)	ERCC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Cockayne syndrome, type A, 216400 (Microcephaly) Tags
Green Green List (high evidence)	FANCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group A, 227650 (Microcephaly) Tags
Green Green List (high evidence)	FANCB	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 NHS GMS Other Phenotypes Fanconi anemia, complementation group B, 300514 Tags
Green Green List (high evidence)	FANCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group C, 227645 (Microcephaly) Tags
Green Green List (high evidence)	FANCD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group D2, 227646 (Microcephaly) Tags
Green Green List (high evidence)	FANCE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group E, 600901 (Microcephaly) Tags
Green Green List (high evidence)	FANCF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group F, 603467 Tags
Green Green List (high evidence)	FANCG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group G, 614082 Tags
Green Green List (high evidence)	FANCI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group I, 609053 Tags
Green Green List (high evidence)	FANCL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group L, 614083 Tags
Green Green List (high evidence)	FBRSL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Microcephaly Heart defect Cleft palate Contractures Hearing impairment Skin creases Tags gene-checked
Green Green List (high evidence)	FOXG1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Rett Syndrome, congenital variant OMIM:613454 Rett syndrome, congenital variant MONDO:0013270 Tags
Green Green List (high evidence)	GINS3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Meier-Gorlin syndrome like Meier-Gorlin syndrome, MONDO:0016817 Tags gene-checked
Green Green List (high evidence)	GMNN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism Meier-Gorlin syndrome 6, 616835 MGORS6 primordial dwarfism Tags
Green Green List (high evidence)	GPT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 Tags
Green Green List (high evidence)	GRM7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 Tags
Green Green List (high evidence)	GTF2E2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 Tags
Green Green List (high evidence)	HDAC8	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes Cornelia de Lange syndrome 5, 300882 (includes Small head circumference) Tags
Green Green List (high evidence)	HHAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Tags
Green Green List (high evidence)	HIST1H4C	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975 Tags new-gene-name
Green Green List (high evidence)	HMGB1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental delay and microcephaly Tags gene-checked
Green Green List (high evidence)	HPDL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green Green List (high evidence)	IARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 Microcephaly Tags new-gene-name
Green Green List (high evidence)	IER3IP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Microcephaly (-3 to -9 SD) Tags
Green Green List (high evidence)	IGF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 MPD microcephalic primordial dwarfism Tags
Green Green List (high evidence)	IGF1R	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450 Tags
Green Green List (high evidence)	INTS11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Tags
Green Green List (high evidence)	5p15 terminal (Cri du chat syndrome) region Loss ISCA-37390-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes 123450 PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay Tags
Green Green List (high evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes 610543 Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green Green List (high evidence)	5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain ISCA-37425-Gain Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes Microcephaly, short stature and developmental delay short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Tags
Green Green List (high evidence)	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss ISCA-37501-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Chromosome 17q23.1-q23.2 deletion syndrome, 613355 PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Tags
Green Green List (high evidence)	7p22.1 region (includes ACTB) Loss ISCA-46742-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	KIF11	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy, 152950 Tags
Green Green List (high evidence)	KIF14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914 Microcephaly 20, primary, autosomal recessive, MONDO:0054761 Tags
Green Green List (high evidence)	KIF1BP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly) Tags new-gene-name
Green Green List (high evidence)	KNL1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437 Tags
Green Green List (high evidence)	LAGE3	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Galloway-Mowat syndrome 2, X-linked, OMIM:301006 Tags
Green Green List (high evidence)	LARP7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Alazami syndrome, 615071 (Microcephaly and short stature) Primordial dwarfism Tags
Green Green List (high evidence)	LIG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism LIG4 syndrome, 606593 microcephaly Tags
Green Green List (high evidence)	LMNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 Tags
Green Green List (high evidence)	LMNB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 27, primary, autosomal dominant, OMIM:619180 Tags
Green Green List (high evidence)	MCPH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly 1, primary, autosomal recessive, OMIM:251200 Tags
Green Green List (high evidence)	METTL5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 72, OMIM:618665 Tags gene-checked
Green Green List (high evidence)	MFSD2A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 Tags
Green Green List (high evidence)	MINPP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia Tags
Green Green List (high evidence)	MORC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay Intellectual disability Growth retardation Microcephaly Craniofacial dysmorphism Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Tags
Green Green List (high evidence)	MSMO1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green Green List (high evidence)	MYCN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Feingold syndrome 1, 164280 (Microcephaly) Tags
Green Green List (high evidence)	NAPB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 107, OMIM:620033 Tags
Green Green List (high evidence)	NARS	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 Tags new-gene-name
Green Green List (high evidence)	NBN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Nijmegen breakage syndrome 251260 Tags
Green Green List (high evidence)	NCAPD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly 21, primary, autosomal recessive, OMIM:617983 Tags
Green Green List (high evidence)	NCAPD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Microcephaly 22, primary, autosomal recessive, OMIM:617984 Tags
Green Green List (high evidence)	NDE1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes MCPH primary microcephaly Lissencephaly 4 (with microcephaly), 614019 ?Microhydranencephaly, 605013 Tags
Green Green List (high evidence)	NHEJ1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 Tags
Green Green List (high evidence)	NIPBL	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cornelia de Lange syndrome 1, 122470 (includes microcephaly) Tags
Green Green List (high evidence)	NSRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green Green List (high evidence)	NUP107	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Galloway-Mowat syndrome 7, OMIM:618348 Tags
Green Green List (high evidence)	NUP188	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sandestig-Stefanova syndrome, OMIM:618804 Tags
Green Green List (high evidence)	NUP214	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742 Tags
Green Green List (high evidence)	ORC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes MPD microcephalic primordial dwarfism Meier-Gorlin syndrome 1, 224690 Tags
Green Green List (high evidence)	ORC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes MPD microcephalic primordial dwarfism Meier-Gorlin syndrome 2, 613800 Tags
Green Green List (high evidence)	ORC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes MPD microcephalic primordial dwarfism Meier-Gorlin syndrome 3, 613803 Tags
Green Green List (high evidence)	OSGEP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Galloway-Mowat syndrome 3, OMIM:617729 Tags
Green Green List (high evidence)	PCDH12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280 Tags
Green Green List (high evidence)	PCNT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MPD microcephalic primordial dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic osteodysplastic primordial dwarfism, type II, 210720 Tags
Green Green List (high evidence)	PDHA1	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 Expert Review Green NHS GMS Phenotypes Microcephaly, seizures, very variable phenotype Tags
Green Green List (high evidence)	PLK4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes MCPH primary microcephaly Microcephaly and chorioretinopathy, autosomal recessive, 2 MCCRP2 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 Tags
Green Green List (high evidence)	PNKP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly, seizures, and developmental delay, 613402 Tags
Green Green List (high evidence)	POC1A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MCPH primary microcephaly Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Microcephaly in adulthood primordial dwarfism SOFT syndrome Tags
Green Green List (high evidence)	POGZ	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes White-Sutton syndrome, OMIM:616364 Tags
Green Green List (high evidence)	PPIL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Green Green List (high evidence)	PQBP1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Renpenning syndrome 309500 Tags
Green Green List (high evidence)	PRIM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Microcephalic primordial dwarfism, MONDO:0017950 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005 Tags
Green Green List (high evidence)	PRUNE1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes microcephaly, spasticity, developmental delay Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490 Tags
Green Green List (high evidence)	PTPN23	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890 Tags
Green Green List (high evidence)	PUF60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Verheij syndrome, OMIM:615583 Tags
Green Green List (high evidence)	PUS7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342 Tags
Green Green List (high evidence)	RAD21	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cornelia de Lange syndrome 4, 614701 (includes microcephaly) Tags
Green Green List (high evidence)	RAD50	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nijmegen breakage syndrome-like disorder, OMIM:613078 Tags
Green Green List (high evidence)	RAD51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Green Green List (high evidence)	RBBP8	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MCPH primary microcephaly Seckel syndrome 2, 606744 (‌includes microcephaly) MICROCEPHALIC PRIMORDIAL DWARFISM 2 Jawad syndrome (microcephaly with mental retardation and digital anomalies), 251255 Jawad syndrome, 251255 (‌includes congenital microcephaly) Tags
Green Green List (high evidence)	RNU4ATAC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I Microcephalic osteodysplastic primordial dwarfism, type I, 210710 MPD microcephalic primordial dwarfism Tags locus-type-rna-small-nuclear
Green Green List (high evidence)	RPL10	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature NHS GMS Phenotypes Mental retardation, X-linked, syndromic, 35 300998 Tags
Green Green List (high evidence)	RTTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MCPH primary microcephaly Microcephaly, short stature, and polymicrogyria with seizures Microcephaly,short stature,and polymicrogyria with seizures,614833 Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833 Tags
Green Green List (high evidence)	SARS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 Tags new-gene-name
Green Green List (high evidence)	SLC1A4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657 Tags founder-effect
Green Green List (high evidence)	SLC25A19	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Amish Lethal Microcephaly Microcephaly, Amish type, 607196 Amish Lethal Microcephaly, 216535 Tags
Green Green List (high evidence)	SLC38A3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Developmental and epileptic encephalopathy 102, 619881 Tags
Green Green List (high evidence)	SLC9A6	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other UKGTN Phenotypes Angelman-like Syndrome microcephaly, seizures, ataxia, and absent speech Mental retardation, X-linked syndromic, Christianson type, 300243 Microcephaly Tags
Green Green List (high evidence)	SLX4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Fanconi anemia, complementation group P, 613951 (Microcephaly) Tags
Green Green List (high evidence)	SMARCA5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability postnatal microcephaly hypotonia failure to thrive Tags gene-checked
Green Green List (high evidence)	SMC1A	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags gene-duplication
Green Green List (high evidence)	SMC3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cornelia de Lange syndrome 3, 610759 (includes microcephaly) Tags
Green Green List (high evidence)	SMG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Microcephaly Short stature Facial dysmorphism Tags
Green Green List (high evidence)	SPATA5L1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
Green Green List (high evidence)	STAMBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261 Tags
Green Green List (high evidence)	STIL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MCPH primary microcephaly Primary Microcephaly, Recessive Microcephaly 7, primary, autosomal recessive, 612703 Microcephaly 7, Primary, Autosomal Recessive Tags
Green Green List (high evidence)	SVBP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816 Tags gene-checked
Green Green List (high evidence)	TMX2	2 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)	TNPO2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability Dysmorphic features Microcephaly Seizures Hypotonia Tags
Green Green List (high evidence)	TOP3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bloom Syndrome-like Disorder Tags
Green Green List (high evidence)	TP53RK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galloway-Mowat syndrome 4, OMIM:617730 Tags
Green Green List (high evidence)	TRAIP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism Seckel syndrome 9, 616777 Microcephaly Tags
Green Green List (high evidence)	TRAPPC10	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 Tags
Green Green List (high evidence)	TRAPPC12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 Tags
Green Green List (high evidence)	TRAPPC6B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 Tags
Green Green List (high evidence)	TRAPPC9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 13, OMIM:613192 Tags
Green Green List (high evidence)	TRIO	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 Tags
Green Green List (high evidence)	TRMT10A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1 616033 MSSGM1 primary microcephaly Tags
Green Green List (high evidence)	TSEN15	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 2F, OMIM:617026 Tags
Green Green List (high evidence)	TSEN54	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green Green List (high evidence)	TTC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Central hypotonia Global developmental delay Intellectual disability Abnormality of nervous system morphology Microcephaly Abnormality of the face Behavioral abnormality Abnormality of the genitourinary system Tags gene-checked
Green Green List (high evidence)	TUBG1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cortical dysplasia, complex, with other brain malformations 4, OMIM: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)	TUBGCP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes MCPH primary microcephaly Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 MCCRP1 Microcephaly and chorioretinopathy with or without mental retardation, 251270 Tags
Green Green List (high evidence)	UBA5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 Tags
Green Green List (high evidence)	UFC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 microcephaly Tags
Green Green List (high evidence)	UFM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 14, 617899 microcephaly Tags
Green Green List (high evidence)	UGP2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 83, OMIM:618744 Tags
Green Green List (high evidence)	UNC80	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 Tags
Green Green List (high evidence)	VRK1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596 Tags
Green Green List (high evidence)	WDR11	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability, MONDO:0001071 Microcephaly, MONDO:0001149 Short stature,HP:0004322 Tags
Green Green List (high evidence)	WDR37	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurooculocardiogenitourinary syndrome, OMIM:618652 Tags gene-checked
Green Green List (high evidence)	WDR4	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 6, OMIM:61834 Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347 Tags
Green Green List (high evidence)	WDR62	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 Tags
Green Green List (high evidence)	WDR73	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Galloway-Mowat syndrome, 251300 Tags
Green Green List (high evidence)	WLS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Zaki syndrome, OMIM:619648 Tags
Green Green List (high evidence)	XRCC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes MPD microcephalic primordial dwarfism Short stature, microcephaly, and endocrine dysfunction, 616541 Tags
Green Green List (high evidence)	YIPF5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 Tags
Green Green List (high evidence)	ZEB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mowat-Wilson syndrome 235730 Tags
Green Green List (high evidence)	ZNF335	8 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Microcephaly 10, primary, autosomal recessive, OMIM:615095 Tags Q1_24_expert_review Q1_24_MOI
Green Green List (high evidence)	ZNF526	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Microcephaly Cataracts Epilepsy Hypertonia Dystonia Tags
Amber Amber List (moderate evidence)	ACBD6	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	AGMO	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Autosomal recessive primary microcephaly (MCPH) primary microcephaly, developmental delay, short stature and intellectual disability Tags
Amber Amber List (moderate evidence)	AKT3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Microcephaly Tags
Amber Amber List (moderate evidence)	AP4B1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Amber Amber List (moderate evidence)	AP4M1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 50, autosomal recessive, OMIM:612936 Hereditary spastic paraplegia 50, MONDO:0013048 Tags missense
Amber Amber List (moderate evidence)	AP4S1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 52, autosomal recessive, OMIM:614067 Hereditary spastic paraplegia 52, MONDO:0013552 Tags
Amber Amber List (moderate evidence)	ARCN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164 Tags watchlist
Amber Amber List (moderate evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Seizures Morphological abnormality of the central nervous system microcephaly, MONDO:0001149 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ATP6V0C	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	ATP9A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental delay Postnatal microcephaly Failure to thrive Gastrointestinal symptoms Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242 Tags
Amber Amber List (moderate evidence)	BRD4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Cornelia de Lange syndrome 6, OMIM:620568 Tags watchlist
Amber Amber List (moderate evidence)	BUB1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	C7orf43	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 25, primary, autosomal recessive, OMIM:618351 Microcephaly 25, primary, autosomal recessive, MONDO:0032694 Tags new-gene-name
Amber Amber List (moderate evidence)	CAMSAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	CCDC88A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes PEHO syndrome-like, 617507 microcephaly Tags
Amber Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber Amber List (moderate evidence)	COPB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly Tags
Amber Amber List (moderate evidence)	CPSF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 Tags
Amber Amber List (moderate evidence)	CRIPT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Short stature with microcephaly and distinctive facies, 615789 Tags
Amber Amber List (moderate evidence)	ERCC5	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Cerebrooculofacioskeletal syndrome 3, 616570 (Microcephaly) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 Tags
Amber Amber List (moderate evidence)	EXOC7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes brain atrophy seizures developmental delay microcephaly Tags
Amber Amber List (moderate evidence)	FILIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microcephaly, MONDO:0001149 Tags watchlist
Amber Amber List (moderate evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	LHX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder Tags
Amber Amber List (moderate evidence)	MCM7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meier-Gorlin syndrome Microcephaly Intellectual disability Tags
Amber Amber List (moderate evidence)	MECP2	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 list Expert Review Amber Phenotypes Rett syndrome, OMIM:312750 Encephalopathy, neonatal severe, OMIM:300673 Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055 Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MED11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 Tags
Amber Amber List (moderate evidence)	MED17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 Tags watchlist
Amber Amber List (moderate evidence)	MPLKIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microcephaly (disease), MONDO:0001149 Tags
Amber Amber List (moderate evidence)	MRE11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Nijmegen breakage syndrome-like severe microcephaly Tags watchlist
Amber Amber List (moderate evidence)	NAA20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes autosomal recessive developmental delay, intellectual disability, and microcephaly Tags
Amber Amber List (moderate evidence)	NSD2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PALB2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Fanconi anemia, complementation group N, 610832 (microcephaly) Tags
Amber Amber List (moderate evidence)	PCDHGC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 Tags
Amber Amber List (moderate evidence)	PDCD6IP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Primary microcephaly Tags watchlist
Amber Amber List (moderate evidence)	PPFIBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PPP1R15B	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817 Tags
Amber Amber List (moderate evidence)	PSMC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 microcephaly, MONDO:0001149 Tags
Amber Amber List (moderate evidence)	QARS	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 615760 Tags new-gene-name
Amber Amber List (moderate evidence)	RAD51C	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Fanconi anemia, complementation group O, 613390 Tags watchlist
Amber Amber List (moderate evidence)	RMI1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Bloom Syndrome-like Disorder Tags watchlist
Amber Amber List (moderate evidence)	RRP7A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly Tags
Amber Amber List (moderate evidence)	SASS6	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Other Phenotypes ?Microcephaly 14, primary, autosomal recessive, OMIM:616402 Tags
Amber Amber List (moderate evidence)	TAF13	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Other Phenotypes Mental retardation, autosomal recessive 60 617432 Tags watchlist
Amber Amber List (moderate evidence)	TRA2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 microcephaly, MONDO:0001149 Tags
Amber Amber List (moderate evidence)	TRIP13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mosaic variegated aneuploidy syndrome 3, OMIM:617598 Tags watchlist
Amber Amber List (moderate evidence)	TTI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder with microcephaly Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	UBE3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Amber Phenotypes Angelman syndrome, OMIM:105830 Tags
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)	YIF1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags watchlist
Amber Amber List (moderate evidence)	ZNF668	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes DNA damage repair defect microcephaly growth deficiency severe global developmental delay brain malformation facial dysmorphism Tags watchlist
Red Red List (low evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder Tags watchlist
Red Red List (low evidence)	ATRIP	2 reviews	Not set	Sources Expert list Expert Review Red NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism Tags
Red Red List (low evidence)	CDC6	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list NHS GMS Other Phenotypes MPD microcephalic primordial dwarfism ?Meier-Gorlin syndrome 5, 613805 Tags
Red Red List (low evidence)	CDK6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature NHS GMS Other Phenotypes Autosomal recessive primary microcephaly (MCPH) ?Microcephaly 12, primary, autosomal recessive, 616080 Tags
Red Red List (low evidence)	CENPE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list NHS GMS Other Phenotypes ?Microcephaly 13, primary, autosomal recessive, 616051 MPD microcephalic primordial dwarfism Tags
Red Red List (low evidence)	CEP63	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Other Phenotypes MCPH primary microcephaly ?Seckel syndrome 6, OMIM:614728 Microcephaly Tags
Red Red List (low evidence)	COPB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Microcephaly, HP:0000252 Tags
Red Red List (low evidence)	EOMES	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature NHS GMS Phenotypes microcephaly syndrome Tags
Red Red List (low evidence)	FANCM	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Phenotypes Fanconi anemia Tags
Red Red List (low evidence)	GINS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome like Meier-Gorlin syndrome, MONDO:0016817 Tags
Red Red List (low evidence)	HIKESHI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Leukodystrophy, hypomyelinating, 13, OMIM:616881 Tags
Red Red List (low evidence)	NCAPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 23, primary, autosomal recessive, 617985 Tags watchlist
Red Red List (low evidence)	NIN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Phenotypes ?Seckel syndrome 7, 614851 SCKL7 Tags
Red Red List (low evidence)	NSMCE2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Other Phenotypes Seckel syndrome 10, 617253 SCKL10 Tags
Red Red List (low evidence)	NUF2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes microcephaly short stature bilateral vocal cord paralysis micrognathia atrial septal defect Tags
Red Red List (low evidence)	PCLO	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list NHS GMS Phenotypes Pontocerebellar hypoplasia, type 3, 608027 Tags
Red Red List (low evidence)	PHC1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Literature NHS GMS Other Phenotypes Autosomal recessive primary microcephaly (MCPH) ?Microcephaly 11, primary, autosomal recessive, 615414 MCPH primary microcephaly Tags
Red Red List (low evidence)	PLAA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 Tags
Red Red List (low evidence)	PPP1R35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Primary microcephaly Tags watchlist
Red Red List (low evidence)	RING1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes microcephaly intellectual disability Tags
Red Red List (low evidence)	RUSC2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Red Red List (low evidence)	SMO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Microcephaly HP:0000252 postaxial polydactyly MONDO:0020927 congenital heart disease MONDO:0005453 Hirschsprung disease MONDO:0018309 Tags
Red Red List (low evidence)	TCF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pitt-Hopkins syndrome, OMIM:610954 Tags
Red Red List (low evidence)	TPR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Microcephaly, MONDO:0001149 Tags
Red Red List (low evidence)	TPRKB	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Galloway-Mowat syndrome 5, OMIM:617731 Tags
Red Red List (low evidence)	TRMT1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature NHS GMS Phenotypes Non‐syndromal congenital microcephaly Tags
Red Red List (low evidence)	TUBGCP3	2 reviews	Not set	Sources Expert list NHS GMS Phenotypes MCPH primary microcephaly Tags
Red Red List (low evidence)	WDFY3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Other Phenotypes ?Microcephaly 18, primary, autosomal dominant, 617520 Tags
Red Red List (low evidence)	ZNHIT3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list NHS GMS Phenotypes PEHO syndrome, 260565 microcephaly Tags
Red Red List (low evidence)	ZPR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 Tags founder-effect
No list No list	CTSF	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 Tags curated_removed

Major version comments

2023-03-22 16:20 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:54 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-11 11:14 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.78) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

Severe microcephaly (Version 4.67)

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