Neurological ciliopathies (Version 3.20)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panels 'Rare multisystem ciliopathy Super panel' (panel id 728), 'Paediatric disorders' (panel id 486), and Hereditary ataxia and cerebellar anomalies - childhood onset (panel id 488); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number.

This panel was originally developed as part of the ‘Rare multisystem ciliopathy disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/150/) 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

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Penny Clouston (Oxford)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Beth Hoskins (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrea Nemeth (University of Oxford)

Group: GeCIP domain
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Gabrielle Wheway (University of the West of England)

Group: GeCIP domain
Workplace: Research lab
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

65 Entities

65 reviewed, 50 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 65 Entitiess
Green Green List (high evidence)	AHI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 3 Joubert syndrome Joubert syndrome-3. Tags
Green Green List (high evidence)	ARL13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARMC9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 30, 617622 Tags
Green Green List (high evidence)	B9D2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	C2CD3	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes short-rib polydactyly syndromes (SRPS MIM208500) MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD ?Orofaciodigital syndrome XIV, 615948 Orofaciodigital syndromes (OFDS, MIM 311200) Tags
Green Green List (high evidence)	C5orf42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Oral-facial-digital syndrome type VI Joubert syndrome 17 Tags new-gene-name
Green Green List (high evidence)	CBY1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags gene-checked
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 9 COACH syndrome Joubert syndrome with oculorenal defect Meckel syndrome 6 Meckel syndrome Tags
Green Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 25, 616781 Joubert syndrome 25 Tags
Green Green List (high evidence)	CEP290	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 610189 Meckel syndrome 4 Senior-Loken syndrome 611755 Joubert syndrome 5 Joubert syndrome with oculorenal defect 610188 Senior-Loken syndrome 6 611134 Meckel syndrome Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ventriculomegaly with cystic kidney disease 219730 Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	DDX59	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	EVC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Tags
Green Green List (high evidence)	EVC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ellis-van Creveld syndrome, 225500 Weyers acrofacial dysostosis, 193530 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Tags
Green Green List (high evidence)	HYLS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Hydrolethalus syndrome, 236680 Tags
Green Green List (high evidence)	ICK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green Green List (high evidence)	IFT74	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Joubert syndrome 40, OMIM:619582 Joubert syndrome 40, MONDO:0030462 Tags
Green Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Joubert syndrome 1 Tags
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly Tags
Green Green List (high evidence)	KIAA0753	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Orofaciodigital syndrome XV 617127 Tags
Green Green List (high evidence)	KIF7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green Green List (high evidence)	LAMA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Tags
Green Green List (high evidence)	MKS1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes occipital encephalocele Joubert syndrome Bardet-Biedl syndrome Joubert syndrome 28 249000 polydactyly polycystic kidneys Meckel-Gruber syndrome Meckel syndrome renal fibrosis Tags
Green Green List (high evidence)	NPHP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 4 Senior-Loken syndrome 256100 Senior-Loken syndrome-1, 266900 609583 Nephronophthisis 1, juvenile Nephronophthisis Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal-hepatic-pancreatic dysplasia Senior-Loken syndrome Nephronophthisis 3, 604387 Meckel syndrome 7, 267010 Renal-hepatic-pancreatic dysplasia 1, 208540 Nephronophthisis Tags
Green Green List (high evidence)	OFD1	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 Phenotypes Joubert syndrome 10 X-linked Joubert syndrome Orofaciodigital syndrome I Tags
Green Green List (high evidence)	PIBF1	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 33, OMIM:617767 ataxia vermis hypoplasia developmental delay thick superior cerebellar peduncles superior cerebellar dysplasia Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 7 Meckel syndrome 5 Joubert syndrome Meckel syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	SCLT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36) No OMIM phenotype Tags gene-checked
Green Green List (high evidence)	SUFU	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Joubert syndrome 32, OMIM:617757 Tags
Green Green List (high evidence)	TCTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Tags
Green Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TCTN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Orofaciodigital syndrome IV Joubert syndrome 18 Meckel-Gruber Mohr-Majewski syndrome Tags
Green Green List (high evidence)	TMEM107	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome 13 617562 ?Joubert syndrome 29 617562 Orofaciodigital syndrome XVI 617563 Tags
Green Green List (high evidence)	TMEM138	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16 Tags
Green Green List (high evidence)	TMEM216	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome: Meckel-Gruber syndrome Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 2 Tags
Green Green List (high evidence)	TMEM218	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39, OMIM:619562 Tags gene-checked
Green Green List (high evidence)	TMEM231	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome Joubert syndrome 20 Joubert syndrome with oculorenal defect Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Tags
Green Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome 14 Tags
Green Green List (high evidence)	TMEM67	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome nephronophthisis COACH syndrome Joubert syndrome 6 ?Bardet-Biedl syndrome? Senior-Boichis syndrome 613550 607361 Meckel-Gruber syndrome Meckel syndrome 610688 Nephronophthisis 11 216360 Tags
Green Green List (high evidence)	TOGARAM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Joubert syndrome 37, OMIM:619185 Joubert syndrome 37, MONDO:0030933 Tags
Green Green List (high evidence)	TXNDC15	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes MGS Meckel-Gruber syndrome Tags gene-checked
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cohen syndrome, 216550 COHEN SYNDROME Tags
Green Green List (high evidence)	ZSWIM6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Acromelic frontonasal dysostosis 603671 Tags
Amber Amber List (moderate evidence)	ARL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Joubert syndrome 35, OMIM:61816 Tags watchlist
Amber Amber List (moderate evidence)	EXOC3L2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Dandy-Walker malformation enlarged echogenic kidneys echogenic kidneys hydrocephalus anhydramnios Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	FAM149B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome oral-facial-digital syndrome OFD VI Tags gene-checked
Amber Amber List (moderate evidence)	POC1B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY Joubert Syndrome Senior-Loken Syndrome Tags
Amber Amber List (moderate evidence)	ZNF423	4 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red Red List (low evidence)	B9D1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Red Red List (low evidence)	CCDC28B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Joubert syndrome, MONDO:0018772 Tags
Red Red List (low evidence)	EXOC8	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) Tags
Red Red List (low evidence)	KIAA0556	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red Red List (low evidence)	KIF14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags
Red Red List (low evidence)	PDE6D	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Joubert syndrome 22 Joubert Syndrome and Senior-Loken Syndrome 24 gene panel ?Joubert syndrome 22, 615665 Tags
Red Red List (low evidence)	RABL2A	1 review 1 red	Unknown	Sources Literature Phenotypes neural tube defects Tags
Red Red List (low evidence)	TAPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 Tags
Red Red List (low evidence)	TBC1D32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes No OMIM phenotype Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) Tags gene-checked
Red Red List (low evidence)	WDR63	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes occipital encephalocele and inconsistent brain lobulation ciliopathy-like disorder Tags new-gene-name

Major version comments

2023-03-22 15:04 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 13:49 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-11 17:04 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.8) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Neurological ciliopathies (Version 3.20)

20 reviewers

65 Entities

65 reviewed, 50 green

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags