Description
Inclusion criteria:
- Coarse facial features warranting further investigation -particularly those with other medical problems, additional dysmorphic facial features or intellectual disability, AND
- Previous investigations to exclude metabolic disorder including a minimum of plasma amino acids, urine organic acids and urine GAGs, AND

Exclusion criteria:
- Known genetic aetiology
- Untreated congenital hypothyroidism
- Metabolic investigations indicative of likely inborn error of metabolism (these
individuals should follow a metabolic pathway of investigation and
recruitment)
- Clinical features of an insulin resistance / lipodystrophy disorder, RASopathy or
overgrowth disorder (these individuals should be investigated and recruited to the relevant specific rare disorder)

Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re- discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:
o Guided by phenotype. There should be a low threshold for Ras-MAPK gene testing, and 11p15 methylation analysis should be considered
o If clinical diagnosis of Pallister-Killian syndrome is considered likely, a skin biopsy for chromosome analysis should be performed prior to recruitment

These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Alice Gardham (North West Thames Genetics)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

38 genes

38 reviewed, 10 green

List Gene Reviews Mode of inheritance Details
38 genes
Green Green List (high evidence)
ABCC9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertrichotic osteochondrodysplasia 239850
Green Green List (high evidence)
AFF4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CHOPS syndrome 616368
Green Green List (high evidence)
ARID1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 2
Green Green List (high evidence)
ARID1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • intellectual disability
  • coffin-siris syndrome
  • Coffin-Siris syndrome 1
Green Green List (high evidence)
PHF6
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
Phenotypes
  • intellectual disability
  • dysmorphism
  • Coffin-Siris-like disorder
Green Green List (high evidence)
SMARCA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Green Green List (high evidence)
SMARCA4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 4
  • Coffin-Siris Syndrome
Green Green List (high evidence)
SMARCB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 3
  • Coffin-Siris Syndrome
Green Green List (high evidence)
SMARCE1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 5
Green Green List (high evidence)
SOX11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • coffin-siris syndrome
Red Red List (low evidence)
AIP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Acromegaly
  • Growth hormone secreting pituitary adenoma
Red Red List (low evidence)
ARSB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy)
  • arylsulfatase B deficiency
Red Red List (low evidence)
CDKN1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
Red Red List (low evidence)
CTSA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Galactosialidosis
Red Red List (low evidence)
D2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • D-2-hydroxyglutaric aciduria
Red Red List (low evidence)
EXT2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Seizures, scoliosis and macrocephaly syndrome, 616682
Red Red List (low evidence)
FBXO31
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive mental retardation 45, 615979
Red Red List (low evidence)
GALNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mucopolysachharidosis IVA (Morquio)
Red Red List (low evidence)
GNE
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Sialuria
Red Red List (low evidence)
GNPTAB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta
Red Red List (low evidence)
HPGD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Primary hypertrophic osteoarthropathy autosomal recessive 1, 259100
Red Red List (low evidence)
INSR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Rabson-Mendenhall syndrome 262190, Donohue syndrome 246200
Red Red List (low evidence)
LAMTOR2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Red Red List (low evidence)
LTBP4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive cutis laxa, Type 1C
Red Red List (low evidence)
MAGEL2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Schaaf Yang
Red Red List (low evidence)
MMP14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Winchester syndrome 27790
Red Red List (low evidence)
MMP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Red Red List (low evidence)
NOTCH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Hajdu Cheney
Red Red List (low evidence)
RBMX
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Shashi X-linke mental retardation
Red Red List (low evidence)
RET
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Multiple endocrine neoplasia IIB
Red Red List (low evidence)
RIN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MACS syndrome
Red Red List (low evidence)
SH3PXD2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Frank-Ter Haar syndrome 249420
Red Red List (low evidence)
SLCO2A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypertrophic osteoarthropathy
Red Red List (low evidence)
SNX14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Red Red List (low evidence)
STAT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Job Hyper IgE recurrent infection
Red Red List (low evidence)
TBC1D24
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Red Red List (low evidence)
THRA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Congenital hypothyroidism
Red Red List (low evidence)
WDR81
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cerebellar ataxia with mental retardation

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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