Description
Inclusion criteria:
• A confident clinical diagnosis of Joubert syndrome or Joubert syndrome related disorder based on the presence of the characteristic 'molar tooth sign' in axial MRI images confirmed by a neuroradiologist experienced in the diagnosis of Joubert syndrome. With or without other supportive features of Joubert syndrome.
OR
• Probable ‘molar tooth sign’ in the presence of additional features of Joubert
syndrome: polydactyly, renal cysts, retinal dystrophy, oculomotor apraxia or the characteristic breathing abnormality

Exclusion criteria:
Known genetic cause

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:
• Joubert syndrome gene panel including AHI1, CC2D2A, CEP290, TMEM67

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

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Gabrielle Wheway (University of the West of England)

    Group: GeCIP domain
    Workplace: Research lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

31 genes

31 reviewed, 1 green

List Gene Reviews Mode of inheritance Details
31 genes
Green Green List (high evidence)
ARMC9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Other
Phenotypes
  • Joubert syndrome-3
Red Red List (low evidence)
ARL13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome 8
Red Red List (low evidence)
B9D1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Meckel-Gruber syndrome
  • Joubert syndrome
Red Red List (low evidence)
B9D2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
Red Red List (low evidence)
C2CD3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Orofaciodigital syndrome XIV
Red Red List (low evidence)
C5orf42
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
Tags
  • new-gene-name
Red Red List (low evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Joubert syndrome 9
Red Red List (low evidence)
CEP290
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Joubert syndrome 5
Red Red List (low evidence)
CEP41
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
CSPP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome, Meckel-Gruber syndrome
Red Red List (low evidence)
INPP5E
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
KIAA0586
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly
Red Red List (low evidence)
KIF7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Acrocallosal syndrome
Red Red List (low evidence)
MKS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Red Red List (low evidence)
NPHP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome, Nephronophthisis
Red Red List (low evidence)
OFD1
1 review
1 green
Other - please specifiy in evaluation comments
Sources
Phenotypes
  • X-linked Joubert syndrome
  • Oral-facial-digital syndrome I
Red Red List (low evidence)
PDE6D
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
PIBF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • vermis hypoplasia
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
  • ataxia
  • developmental delay
Red Red List (low evidence)
POC1B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • cone-rod dystrophy
Red Red List (low evidence)
RPGRIP1L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • COACH syndrome
  • Meckel-Gruber syndrome
Red Red List (low evidence)
TCTN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
TCTN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Red Red List (low evidence)
TCTN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
Red Red List (low evidence)
TMEM138
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
TMEM216
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Red Red List (low evidence)
TMEM231
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Red Red List (low evidence)
TMEM237
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
Red Red List (low evidence)
TMEM67
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Joubert syndrome 6
Red Red List (low evidence)
TTC21B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Nephronophthisis 12
  • Short-rib thoracic dysplasia 4 with or without polydactyly
Red Red List (low evidence)
ZNF423
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • nephronophthisis

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

Downloads

Download lists

Download Version