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'.

The content of this panel (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/162/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

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 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.

15 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • Helen Brittain (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

  • Sebastian Lunke (Victorian Clinical Genetics Services)

    Group: Other
    Workplace: Other diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

195 Entities

195 reviewed, 95 green

List Entity Reviews Mode of inheritance Details
195 Entitiess
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
  • MCPH
  • primary microcephaly
  • Primary Microcephaly, Recessive
  • Autosomal recessive primary microcephaly (MCPH)
  • Microcephaly 5, primary, autosomal recessive, 608716
  • Microcephaly 5, Primary, Autosomal Recessive
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
  • MPD
  • microcephalic primordial dwarfism
  • Bloom syndrome, 210900
  • microcephaly
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, 605724 (Microcephaly)
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, 609054
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)
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)
CEP63
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • MCPH
  • primary microcephaly
  • ?Seckel syndrome 6, 614728
  • Microcephaly
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)
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)
CTNNB1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • primary microcephaly
  • Mental retardation, autosomal dominant 19, 615075
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)
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)
DPP6
3 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
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)
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)
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)
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)
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 270450
Tags
Green Green List (high evidence)
5p15 terminal (Cri du chat syndrome) region Loss
ISCA-37390-Loss
Region
1 review
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
1 review
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)
  • 612513
  • PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Tags
Green Green List (high evidence)
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
ISCA-37425-Gain
Region
1 review
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
1 review
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)
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)
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
  • MCPH
  • primary microcephaly
  • Primary Microcephaly, Recessive
  • Microcephaly 4, primary, autosomal recessive, 604321
  • Microcephaly 4, Primary, Autosomal Recessive
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)
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
  • MCPH
  • primary microcephaly
  • Primary Microcephaly, Recessive
  • Microcephaly 1, primary, autosomal recessive, 251200
  • Microcephaly 1, Primary, Autosomal Recessive
Tags
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)
MSMO1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
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)
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)
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 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)
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)
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)
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)
PRUNE1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • microcephaly, spasticity, developmental delay
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)
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)
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)
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)
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, 300590 (includes microcephaly)
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)
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 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)
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)
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)
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)
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)
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
  • MCPH
  • primary microcephaly
  • Primary Microcephaly 2 With or Without Cortical Malformations
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
  • microcephaly cortical malformations and mental retardation (MCMMR), 604317
  • Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
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)
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)
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
Amber Amber List (moderate evidence)
ADARB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Tags
  • for-review
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)
CEP55
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • microcephaly, speech delays, and bilateral toe syndactyly
Tags
  • for-review
Amber Amber List (moderate evidence)
COASY
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
Tags
  • watchlist
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)
DNMT3A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Heyn-Sproul-Jackson syndrome OMIM:618724
  • MONDO:0032882
Tags
  • for-review
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)
LMNB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital microcephaly
  • Global developmental delay
  • Intellectual disability
  • LMNB1-associated developmental disorder
Tags
  • for-review
Amber Amber List (moderate evidence)
LMNB2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital microcephaly
  • Global developmental delay
  • Intellectual disability
Tags
  • for-review
Amber Amber List (moderate evidence)
METTL5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 72, 618665
Tags
  • for-review
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)
NCAPD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 21, primary, autosomal recessive, 617983
Tags
  • for-review
Amber Amber List (moderate evidence)
NCAPD3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 22, primary, autosomal recessive, 617984
Tags
Amber Amber List (moderate evidence)
NUP188
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
Tags
  • for-review
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)
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)
RAD50
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nijmegen breakage syndrome-like disorder, 613078
Tags
  • watchlist
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)
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)
TMX2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730
Tags
  • for-review
Amber Amber List (moderate evidence)
TTC5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
  • for-review
Amber Amber List (moderate evidence)
TUBGCP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737
Tags
  • for-review
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 105830
Tags
  • for-review
Amber Amber List (moderate evidence)
WDR4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
Tags
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)
ZNF335
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Other
Phenotypes
  • Microcephaly 10, primary, autosomal recessive, 615095
Tags
  • for-review
Red Red List (low evidence)
AGMO
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Autosomal recessive primary microcephaly (MCPH)
  • primary microcephaly, developmental delay, short stature and intellectual disability
Tags
Red Red List (low evidence)
ANKLE2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Other
Phenotypes
  • ?Microcephaly 16, primary, autosomal recessive, 616681
Tags
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)
DNA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Other
Phenotypes
  • ?Seckel syndrome 8, 615807
  • SCKL8
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)
ERCC5
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, 616570 (Microcephaly)
  • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
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)
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)
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)
PPP1R15B
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Other
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 2, 616817
  • MSSGM2
Tags
Red Red List (low evidence)
SASS6
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS GMS
  • Other
Phenotypes
  • autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 14, primary, autosomal recessive, 616402
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
No list No list
AARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 29, MIM# 616339
Tags
No list No list
AKT3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Microcephaly
Tags
No list No list
AP4B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, MIM# 614066
Tags
No list No list
AP4E1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, MIM# 613744
Tags
No list No list
AP4M1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 50, autosomal recessive (MIM#612936)
Tags
No list No list
AP4S1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 52, autosomal recessive (MIM#614067)
Tags
No list No list
ARCN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Tags
No list No list
ATP1A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
Tags
No list No list
BPTF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
Tags
No list No list
BRD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Cornelia de Lange-like syndrome
Tags
No list No list
BUB1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1 (MIM#257300)
Tags
No list No list
C7orf43
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, MIM# 618351
Tags
No list No list
CHAMP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 40 (MIM#616579)
Tags
No list No list
CSNK2A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Okur-Chung neurodevelopmental syndrome MIM#617062
Tags
No list No list
CTSF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 21 (MIM#615502)
Tags
No list No list
CTU2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142)
Tags
No list No list
DPM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Ie 608799
Tags
No list No list
DYNC1I2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Tags
No list No list
EIF2S3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • MEHMO syndrome, MIM# 300148
Tags
No list No list
FOXG1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Rett syndrome, congenital variant, MIM# 613454
Tags
No list No list
HIST1H4C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Growth delay, microcephaly and intellectual disability
Tags
No list No list
KIF14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM# 617914
Tags
No list No list
LAGE3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked, MIM# 301006
Tags
No list No list
MECP2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
Phenotypes
  • Rett syndrome, MIM# 312750
  • Encephalopathy, neonatal severe 300673
Tags
No list No list
MED17
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668
Tags
No list No list
NSD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • microcephaly
  • intellectual disability
Tags
No list No list
NUP107
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 7, MIM# 618348
Tags
No list No list
OSGEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 3, MIM# 617729
Tags
No list No list
PCDH12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Tags
No list No list
PDCD6IP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Primary microcephaly
Tags
No list No list
POGZ
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • White-Sutton syndrome, MIM# 616364
Tags
No list No list
PTPN23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Tags
No list No list
PUF60
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Verheij syndrome, MIM# 615583
Tags
No list No list
PUS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342
Tags
No list No list
RUSC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal recessive 61, MIM# 617773
Tags
No list No list
SLC1A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Tags
No list No list
SMO
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microcephaly, congenital heart disease, polydactyly, aganglionosis
Tags
No list No list
SVBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569
Tags
No list No list
TCF4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Pitt-Hopkins syndrome, MIM# 610954
Tags
No list No list
TP53RK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 4, MIM# 617730
Tags
No list No list
TPRKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 5, MIM# 617731
Tags
No list No list
TRAPPC12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Tags
No list No list
TRAPPC6B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Tags
No list No list
TRAPPC9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal recessive 13, MIM# 613192
Tags
No list No list
TRIO
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 44, MIM# 617061
Tags
No list No list
TSEN15
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 2F MIM#617026
Tags
No list No list
TSEN54
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753)
Tags
No list No list
UGP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy
  • intellectual disability
  • microcephaly
Tags
No list No list
UNC80
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801
Tags
No list No list
VRK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia type 1A MIM#607596
Tags
No list No list
WDR37
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurooculocardiogenitourinary syndrome MIM#618652
Tags

Major version comments

Downloads

Download lists

Download Version