Thoracic dystrophies (Version 1.20)

Description

Thoracic dystrophies eligibility statement:

Thoracic dystrophies inclusion criteria (29713)
- Isolated thoracic dystrophy
- Thoracic dystrophy with multisystem involvement: renal cysts, hepatic cysts, retinal dystrophy, laterality defect, polydactyly (>1 limb)
- Thoracic dystrophy with skeletal dysplasia (e.g. pelvic dysplasia)
- Thoracic dystrophy with laryngeal stenosis

Thoracic dystrophies exclusion criteria (29713)
- Established molecular diagnosis of ciliopathy
- Radiology consistent with abnormal methylation pattern at chromosome 14q34

Prior genetic testing guidance (29713)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Thoracic dystrophies prior genetic testing genes (29713)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)

Closing statement (29713)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Helen Savage (Congenica Ltd)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Hannah Mitchison (UCL and GOSH)

Group: GeCIP domain
Workplace: Research lab
Melita Irving (Guy's and St Thomas' NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

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

Group: Other
Workplace: Other
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

134 Entities

134 reviewed, 28 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 134 Entitiess
Green Green List (high evidence)	C21orf2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Jeune/Axial Spondylomethaphyseal dysplasia Axial Spondylometaphyseal Dysplasia 602271 Tags new-gene-name
Green Green List (high evidence)	C2CD3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME XIV OFD14, #615948 Tags
Green Green List (high evidence)	CEP120	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly 616300 ORPHA:474 Jeune syndrome ORPHA:475 Joubert syndrome ORPHA:220493 Joubert syndrome with ocular defect Tags
Green Green List (high evidence)	CSPP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Joubert syndrome 21 615636 ORPHA:475 Joubert syndrome ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:564 Meckel syndrome Tags
Green Green List (high evidence)	DYNC2H1	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	DYNC2LI1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SRTD15 #617088 Tags
Green Green List (high evidence)	EVC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld Syndrome Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 Tags
Green Green List (high evidence)	EVC2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld syndrome Tags
Green Green List (high evidence)	HYLS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes HYDROLETHALUS SYNDROME 1 HLS1, # 236680 Tags
Green Green List (high evidence)	ICK	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green Green List (high evidence)	IFT122	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes CED Tags
Green Green List (high evidence)	IFT140	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mainzer-Saldino Syndrome Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 Tags
Green Green List (high evidence)	IFT172	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Tags
Green Green List (high evidence)	IFT43	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Cranioectodermal dysplasia 3 614099 Tags
Green Green List (high evidence)	IFT52	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green 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	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 Tags
Green Green List (high evidence)	IFT81	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Short-Rib Polydactyly Syndrome Tags
Green Green List (high evidence)	KIAA0586	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546 Tags
Green Green List (high evidence)	KIF7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes ACROCALLOSAL SYNDROME, ACLS / JOUBERT SYNDROME 12 #200990 Tags
Green Green List (high evidence)	NEK1	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Short rib-polydactyly syndrome, type IIA, 263520 Short Rib Polydactyly Syndrome Tags
Green Green List (high evidence)	OFD1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME I, OFD1 #311200 Tags
Green Green List (high evidence)	TCTEX1D2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other 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)	TRPV6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperparathyroidism, transient neonatal, 618188 Tags
Green Green List (high evidence)	TTC21B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Asphyxiating Thoracic Dystrophy Nephronophthisis 12, 613820 Tags
Green Green List (high evidence)	WDR19	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Asphyxiating thoracic dystrophy 5, 614376 Tags
Green Green List (high evidence)	WDR34	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Jeune Asphyxiating Thoracic Dystrophy Tags new-gene-name
Green Green List (high evidence)	WDR35	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cranioectodermal dysplasia 2, 613610Short rib-polydactyly syndrome, type V, 614091 Tags
Green Green List (high evidence)	WDR60	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Jeune Asphyxiating Thoracic Dystrophy Tags new-gene-name
Amber Amber List (moderate evidence)	DDX59	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Orofaciodigital syndrome V 174300 ORPHA:2919 Orofaciodigital syndrome type 5 Tags watchlist
Amber Amber List (moderate evidence)	INTU	4 reviews 2 green	Not set	Sources Expert Review Expert Review Amber Phenotypes SRPS Tags
Amber Amber List (moderate evidence)	TMEM107	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Meckel-Gruber syndrome Orofaciodigital syndrome Tags
Red Red List (low evidence)	ACVR2B	3 reviews 3 red	Not set	Sources Emory Genetics Laboratory Phenotypes Ciliopathies Tags
Red Red List (low evidence)	ADGRV1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	AHI1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	AIPL1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	ARL13B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	ARL6	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	ATXN10	4 reviews 2 red	Other	Sources Emory Genetics Laboratory Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	B9D1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory 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)	B9D2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Red Red List (low evidence)	BBS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS10	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS12	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	BBS9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	C2orf71	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red Red List (low evidence)	C5orf42	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes OROFACIODIGITAL SYNDROME VI OFD6 Tags new-gene-name
Red Red List (low evidence)	CC2D2A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CCDC28B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CCDC39	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CCDC40	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CDH23	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CEP164	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CEP290	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CEP41	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CFTR	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CLRN1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CRB1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CRELD1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CRX	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAAF1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAAF2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAAF3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAH11	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAH5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAI1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAI2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAL1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	FOXH1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GDF1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GLIS2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GUCY2D	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	IMPDH1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	INVS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	IQCB1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	KCNJ13	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	LCA5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	LEFTY2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	LRAT	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MKKS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MKS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MYO7A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NEK8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NKX2-5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NME8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NODAL	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NPHP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NPHP3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NPHP4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	PCDH15	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	PKD2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	PKHD1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RD3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RDH12	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPE65	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGR	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGRIP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGRIP1L	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RSPH4A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RSPH9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SCLT1	3 reviews 2 red	Not set	Sources Expert Review Expert Review Red Phenotypes Orofaciodigital syndrome Tags
Red Red List (low evidence)	SCNN1A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SCNN1B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SCNN1G	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SDCCAG8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SPATA7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TBC1D32	3 reviews 2 red	Not set	Sources Expert Review Phenotypes OFD Tags gene-checked
Red Red List (low evidence)	TCTN1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TCTN2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TMEM138	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TMEM216	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TMEM231	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TMEM237	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TMEM67	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TOPORS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TRIM32	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TSC1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TSC2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TTC8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TULP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	UMOD	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH1C	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH1G	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH2A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	VHL	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	WDPCP	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	WHRN	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	XPNPEP3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	ZIC3	3 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS VACTERLX Tags
Red Red List (low evidence)	ZNF423	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Tags
No list No list	ATXN10_ATTCT STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags curated_removed STR

Major version comments

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

Thoracic dystrophies (Version 1.20)

11 reviewers

134 Entities

134 reviewed, 28 green

4 reviews

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5 reviews

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4 reviews

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3 reviews

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