Skeletal ciliopathies (Version 3.23)

The latest signed off version for the GMS is v3.1. 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) and 'Paediatric disorders' (panel id 486); 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

18 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
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
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

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

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS 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

69 Entities

69 reviewed, 35 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 69 Entitiess
Green Green List (high evidence)	C21orf2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Jeune asphyxiating thoracic dystrophy (JATD) Jeune Syndrome Spondylometaphyseal dysplasia, axial, 602271 Retinal dystrophy with macular staphyloma, 617547 Tags new-gene-name
Green Green List (high evidence)	C2CD3	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen 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)	CEP120	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 Tags
Green Green List (high evidence)	CSPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Joubert syndrome 21, OMIM:615636 Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342 Tags
Green Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DYNC2H1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Short-rib throacic dysplasia 15 with polydactyly, 617088 Tags
Green Green List (high evidence)	EVC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Tags
Green Green List (high evidence)	EVC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 list Expert Review Green UKGTN Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 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)	IFT122	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia Cranioectodermal dysplasia 1, 218330 Tags
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Saldino-Mainzer syndrome Jeune syndrome Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Mainzer-Saldino Syndrome Short-rib thoracic dysplasia 9 with or without polydactyly Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Retinitis pigmentosa 71, 616394 Short-rib thoracic dysplasia 10 with or without polydactyly Saldino-Mainzer syndrome Jeune syndrome Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Tags
Green Green List (high evidence)	IFT43	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 3, 614099 Sensenbrenner syndrome Short-rib thoracic dysplasia 18 with polydactyly, 617866 Tags
Green Green List (high evidence)	IFT52	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Green Green List (high evidence)	IFT80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly Jeune syndrome Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 Tags
Green Green List (high evidence)	IFT81	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 Tags
Green Green List (high evidence)	INTU	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925 ?Orofaciodigital syndrome XVII, OMIM:617926 Tags
Green Green List (high evidence)	IQCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A7 OMIM:617642 polydactyly, postaxial, type a7 MONDO:0060550 Tags
Green Green List (high evidence)	KIAA0753	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome Short-rib skeletal dysplasia Tags
Green Green List (high evidence)	LBR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green UKGTN Phenotypes Skeletal Ciliopathies Greenberg skeletal dysplasia, 215140 Tags
Green Green List (high evidence)	NEK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 Tags
Green Green List (high evidence)	PIK3C2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculoskeletodental syndrome 618440 Tags
Green Green List (high evidence)	PMM2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags Q3_23_demote_red Q3_23_expert_review
Green Green List (high evidence)	PRKACA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cardioacrofacial dysplasia 1, OMIM:619142 Tags
Green Green List (high evidence)	PRKACB	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Cardioacrofacial dysplasia 2, OMIM:619143 Tags
Green Green List (high evidence)	SBDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green UKGTN Phenotypes Skeletal Ciliopathies Tags
Green Green List (high evidence)	TCTEX1D2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Jeune asphyxiating thoracic dystrophy JATD Tags new-gene-name
Green Green List (high evidence)	TTC21B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other UKGTN Phenotypes Nephronophthisis 12, 613820 Short-rib thoracic dysplasia 4 with or without polydactyly Jeune syndrome Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 Nephronophthisis Tags
Green Green List (high evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 13, 614377 ?Short-rib thoracic dysplasia 5 with or without polydactyly Senior-Loken syndrome 8, 616307 Cranioectodermal dysplasia ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Jeune syndrome Senior-Loken syndrome ?Cranioectodermal dysplasia 4, 614378 Nephronophthisis Tags
Green Green List (high evidence)	WDR34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green Green List (high evidence)	WDR35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 2, 613610 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Green Green List (high evidence)	WDR60	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome SHORT-RIB POLYDACTYLY Tags new-gene-name
Green Green List (high evidence)	ZSWIM6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Acromelic frontonasal dysostosis 603671 Tags
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)	GRK2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeune syndrome, MONDO:0018770 Tags
Amber Amber List (moderate evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PDIA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber Amber List (moderate evidence)	SUFU	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Joubert syndrome 32, OMIM:617757 Tags watchlist
Red Red List (low evidence)	B9D1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN 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)	RABL2A	1 review 1 red	Unknown	Sources Literature Phenotypes polydactyly growth retardation Tags
Red Red List (low evidence)	TAPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list 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 list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) Tags gene-checked
No list No list	ARL6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes {Bardet Biedl syndrome 1, modifier of} Bardet-Biedl Syndrome 268000 Bardet Biedl syndrome 3 Tags curated_removed
No list No list	BBIP1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags curated_removed
No list No list	BBS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 13 268000 Bardet Biedl syndrome 1 Bardet Biedl syndrome 11 Tags curated_removed
No list No list	BBS10	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 10 Tags curated_removed
No list No list	BBS12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 12 Tags curated_removed
No list No list	BBS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 2 Tags curated_removed
No list No list	BBS4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 4 Tags curated_removed
No list No list	BBS5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 5 Tags curated_removed
No list No list	BBS7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 7 Tags curated_removed
No list No list	BBS9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 9 Tags curated_removed
No list No list	C8orf37	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes Bardet-Biedl syndrome 21, 617406 Tags curated_removed new-gene-name
No list No list	CCDC28B	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes ciliopathies {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags curated_removed
No list No list	CENPF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Orphanet Radboud University Medical Center, Nijmegen Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags curated_removed
No list No list	DDX59	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome V, 174300 Tags curated_removed
No list No list	IFT27	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 19, 615996 Tags curated_removed
No list No list	IFT74	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes ?Bardet-Biedl syndrome 20, 617119 Tags curated_removed
No list No list	LZTFL1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 17, 615994 Tags curated_removed
No list No list	MKKS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 6 236700 Tags curated_removed
No list No list	MKS1	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Orphanet Other Phenotypes occipital encephalocele Joubert syndrome Bardet-Biedl syndrome Joubert syndrome 28 249000 polydactyly polycystic kidneys Meckel-Gruber syndrome Meckel syndrome renal fibrosis Tags curated_removed
No list No list	SCLT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Senior-L ken Syndrome No OMIM phenotype Oro-facio-digital syndrome type IX Tags curated_removed
No list No list	SDCCAG8	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Orphanet Phenotypes SENIOR-LOKEN SYNDROME Bardet-Biedl Syndrome 613615 Senior-Loken syndrome Tags curated_removed
No list No list	TRIM32	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, type 2H, 254110 Tags curated_removed
No list No list	TTC8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Removed Phenotypes Bardet Biedl syndrome 8 Tags curated_removed
No list No list	TXNDC15	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Phenotypes MGS Meckel-Gruber syndrome Tags curated_removed
No list No list	WDPCP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 15, 615992 Meckel syndrome ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags curated_removed

Major version comments

2023-03-22 15:23 Arina Puzriakova (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 13:47 Catherine Snow (Genomics England) 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

2019-12-10 11:37 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.43) was signed off under NHS Genomic Medicine Service governance on 10th Dec 2019. The panel was promoted to the next major version (version 1.0) as a result of this.

Skeletal ciliopathies (Version 3.23)

18 reviewers

69 Entities

69 reviewed, 35 green

3 reviews

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4 reviews

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3 reviews

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3 reviews

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4 reviews

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3 reviews

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