Joubert syndrome (Version 0.47)

This Panel is marked as Internal

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.

Panel Activity

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 Entities

31 reviewed, 1 green

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

Joubert syndrome (Version 0.47)

5 reviewers

31 Entities

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