Description
Intracerebral calcification disorders inclusion criteria (36622)
•	Intracerebral calcification identified on brain imaging in the absence of a known genetic cause.

Intracerebral calcification disorders exclusion criteria (36622)
•	Known genetic diagnosis.
•	Evidence of causative environmental cause, for example infection
•	Phenotype indicative of other recruitable rare disorder, for example Cockayne syndrome

Prior genetic testing guidance (36622)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Intracerebral calcification disorders prior genetic testing genes (36622)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 -	Guided by phenotype, for example UKGTN Aidcardi-Goutieres syndrome gene panel testing

Closing statement (36622)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Yanick Crow (University of Manchester)

    Group: GeCIP domain
    Workplace: Other clinical service

  • Cristina Dias (The Francis Crick Institute)

    Group: NHS Genomic Medicine Centre
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

25 Entities

25 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green Green List (high evidence)
ACP5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation
  • Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
Tags
Green Green List (high evidence)
ADAR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 6
  • Aicardi-Goutieres syndrome
  • Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Tags
Green Green List (high evidence)
AP1S2
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
Phenotypes
  • Calcifications in basal ganglia
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Porencephaly 1
  • Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
Tags
Green Green List (high evidence)
CTC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
  • Coats Plus syndrome
Tags
Green Green List (high evidence)
CYP2U1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 56, autosomal recessive
Tags
Green Green List (high evidence)
IFIH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 7, 615846
  • Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Tags
Green Green List (high evidence)
JAM3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Tags
Green Green List (high evidence)
OCLN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria
  • Band-like calcification with simplified gyration and polymicrogyria, 251290
  • Severe developmental delay with microcephaly
Tags
  • structural-variant
Green Green List (high evidence)
PDGFB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal ganglia calcification, idiopathic, 5, 615483
  • Fahr syndrome
Tags
Green Green List (high evidence)
PDGFRB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal ganglia calcification idiopathic 4, 615007
  • Calcifications in basal ganglia
  • Fahr syndrome
Tags
Green Green List (high evidence)
RNASEH2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres Syndrome
Tags
Green Green List (high evidence)
RNASEH2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 2
  • Aicardi-Goutieres Syndrome
Tags
Green Green List (high evidence)
RNASEH2C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 3
  • Aicardi-Goutieres Syndrome
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome
  • Aicardi-Goutieres Syndrome
Tags
Green Green List (high evidence)
SLC20A2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal ganglia calcification, idiopathic, 1, 213600
  • Familial Idiopathic Basal Ganglia Calcification
  • Fahr syndrome
Tags
  • deletions
Green Green List (high evidence)
TREM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Calcifications in basal ganglia
  • Nasu-Hakola disease
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Tags
Green Green List (high evidence)
TREX1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive
  • Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
Tags
Green Green List (high evidence)
USP18
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • pseudo-TORCH syndrome
Tags
Green Green List (high evidence)
XPR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal ganglia calcification (Fahr syndrome)
  • Basal ganglia calcification, idiopathic, 6, 616413
Tags
Red Red List (low evidence)
ERCC6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Intercranial Calcifications
Tags
Red Red List (low evidence)
MAT1A
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Calcifications in basal ganglia
  • Methionine adenosyltransferase deficiency, autosomal recessive
Tags
Red Red List (low evidence)
PCDH12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • intellectual disability
  • microcephaly
  • epilepsy
  • perithalamic hyperechogenicity
  • periventricular hyperechogenicity
  • midbrain abnormalities
  • hypothalamic abnormalities
Tags
  • founder-effect
Red Red List (low evidence)
SCN2A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 11
  • Seizures, benign familial infantile, 3
Tags
Red Red List (low evidence)
SNORD118
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • 614561
Tags
  • locus-type-small-nucleolar

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