Ductal plate malformation (Version 1.29)

Description

Ductal plate malformation inclusion criteria 
Ductal plate malformation as defined by an individual diagnosis of or any combination of multiple biliary hamartomas, Caroli’s disease, choledochal cyst, polycystic liver disease or congenital hepatic fibrosis 

Radiological and/or histological evidence supportive of DPM as the primary liver diagnosis. In addition, the clinical entity of idiopathic non-cirrhotic portal hypertension where a liver explant/representative liver biopsy is defined histologically using any of these interchangeable terms: hepatoportal sclerosis, incomplete septal cirrhosis, non-cirrhotic portal fibrosis. 

Ductal plate malformation exclusion criteria 
Where ductal plate malformation is part of a complex phenotype – recruit such cases to relevant ciliopathy disease group 
Extrahepatic portal vein thrombosis, nodular regenerative hyperplasia, Budd-Chiari syndrome, sinusoidal obstruction syndrome. 

Prior genetic testing guidance 
- 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. 

Ductal plate malformation prior genetic testing genes 
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
If polycystic renal disease, PKD1, PKD2 (autosomal dominant), PKHD1 (autosomal recessive). 

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

Rare multisystem ciliopathy genes will not be included in this panel, if a patient is suspected of having a ciliopathy then the Rare multisystem ciliopathy disorders panel (https://panelapp.genomicsengland.co.uk/panels/150/) should be applied in addition to this panel for genome analysis. Ciliopathy genes were therefore made grey (removed) on this panel.

Panel Activity

7 reviewers

John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Bill Griffiths (Cambridge University Hospitals)

Group: NHS Genomic Medicine Centre
Workplace: NHS 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
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

151 Entities

60 reviewed, 14 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 151 Entitiess
Green Green List (high evidence)	ALG8	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Polycystic Liver Disease 3 (617874) Congenital disorder of glycosylation, type Ih (608104) Tags
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	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 Joubert syndrome 9 (612285) Meckel syndrome 6 (612284) COACH syndrome (216360) congenital hepatic fibrosis Tags
Green Green List (high evidence)	DGUOK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Portal hypertension, noncirrhotic (617068) Tags
Green Green List (high evidence)	DNAJB11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease (618061) Tags
Green Green List (high evidence)	GANAB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease 3 (600666) Tags
Green Green List (high evidence)	LRP5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) Tags
Green Green List (high evidence)	PKD1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) Tags
Green Green List (high evidence)	PKD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) Tags
Green Green List (high evidence)	PKHD1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) Tags
Green Green List (high evidence)	PRKCSH	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	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 Joubert syndrome 7 (611560) Meckel syndrome 5 (611561) COACH syndrome (216360) Tags
Green Green List (high evidence)	SEC63	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) Tags
Green Green List (high evidence)	TMEM67	2 reviews 2 green	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 Meckel syndrome 3 (607361) Nephronophthisis 11 (613550) Joubert syndrome 6 (310688) {Bardet-Biedl syndrome 14, modifier of} (615991) COACH syndrome (216360) congenital hepatic fibrosis Tags
Green Green List (high evidence)	TULP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags
Amber Amber List (moderate evidence)	B9D1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services NHS GMS 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 watchlist
Amber Amber List (moderate evidence)	RTEL1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190) Dyskeratosiscongenita, autosomal dominant 4 (615190) Tags
Amber Amber List (moderate evidence)	SEC61B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Literature NHS GMS Phenotypes Association with polycystic liver disease 1 with or without renal cysts Tags
Amber Amber List (moderate evidence)	STN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) Tags
Amber Amber List (moderate evidence)	TERC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) Tags
Amber Amber List (moderate evidence)	TERT	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989) {Dyskeratosis congenita, autosomal recessive 4} (613989) Tags
Red Red List (low evidence)	ACD	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Tags
Red Red List (low evidence)	AGT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal tubular dysgenesis (267430) Tags
Red Red List (low evidence)	BICC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes {Renal dysplasia, cystic, susceptibility to} (601331) Tags
Red Red List (low evidence)	BSND	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Bartter syndrome, type 4a (602522) Sensorineural deafness with mild renal dysfunction (602522) Tags
Red Red List (low evidence)	CCDC103	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Ciliary dyskinesia, primary, 17 (614679) Tags
Red Red List (low evidence)	CCDC114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Ciliary dyskinesia, primary, 20 (615067) Tags new-gene-name
Red Red List (low evidence)	CCDC39	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ciliary dyskinesia, primary, 14 (613807) Tags
Red Red List (low evidence)	CCDC40	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ciliary dyskinesia, primary, 15 (613808) Tags
Red Red List (low evidence)	CCND1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes {von Hippel-Lindau syndrome, modifier of} (193300) {Colorectal cancer, susceptibility to} (114500) Tags
Red Red List (low evidence)	CLCNKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags monogenic-polygenic
Red Red List (low evidence)	CLDN16	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypomagnesemia 3, renal (248250) Tags
Red Red List (low evidence)	CLDN19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypomagnesemia 5, renal, with ocular involvement (248190) Tags
Red Red List (low evidence)	CPT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Red Red List (low evidence)	CTC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts (612199) Tags
Red Red List (low evidence)	DKC1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, X-linked (305000) Tags
Red Red List (low evidence)	DNAAF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 13 (613193) Tags
Red Red List (low evidence)	DNAAF2	1 review 1 red	Unknown	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 10 (612518) Tags
Red Red List (low evidence)	DNAAF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 2 (606763) Tags
Red Red List (low evidence)	DNAAF5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Ciliary dyskinesia, primary, 18 (614874) Tags
Red Red List (low evidence)	DNAH11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus (611884) Tags
Red Red List (low evidence)	DNAH5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (608644) Tags
Red Red List (low evidence)	DNAI1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus (244400) Tags
Red Red List (low evidence)	DNAI2	1 review 1 red	Unknown	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus (612444) Tags
Red Red List (low evidence)	DNAL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 16 (614017) Tags
Red Red List (low evidence)	EYA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Branchiootic syndrome 1 (602588) Branchiootorenal syndrome 1, with or without cataracts (113650) Tags
Red Red List (low evidence)	FANCD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Fanconi anemia, complementation group D2 (227646) Tags
Red Red List (low evidence)	GRHPR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hyperoxaluria, primary, type II (260000) Tags
Red Red List (low evidence)	HOGA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hyperoxaluria, primary, type III (613616) Tags
Red Red List (low evidence)	HYDIN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Ciliary dyskinesia, primary, 5 (608647) Tags
Red Red List (low evidence)	INTU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly (617925) ?Orofaciodigital syndrome XVII (617926) Tags
Red Red List (low evidence)	JAG1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Alagille syndrome 1, OMIM:118450 Tags
Red Red List (low evidence)	KCNN3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes No OMIM number portal hypertension varices splenomegaly Tags watchlist
Red Red List (low evidence)	KIF14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags
Red Red List (low evidence)	LRRC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Ciliary dyskinesia, primary, 19 (614935) Tags new-gene-name
Red Red List (low evidence)	MRE11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Ataxia-telangiectasia-like disorder 1 (604391) Tags
Red Red List (low evidence)	NHP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Dyskeratosis congenita, autosomal recessive 2 (613987) Tags
Red Red List (low evidence)	NLRP1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Autoinflammation with arthritis and dyskeratosis (617388) Tags
Red Red List (low evidence)	NME8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 6 (610852) Tags
Red Red List (low evidence)	NOP10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 Tags
Red Red List (low evidence)	NOTCH2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen, Expert list Phenotypes Alagille syndrome 2 (610205) Tags
Red Red List (low evidence)	NXPH2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 2, infantile (602088) Tags
Red Red List (low evidence)	PAX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Glomerulosclerosis, focal segmental, 7 (616002) Papillorenal syndrome (120330) Tags
Red Red List (low evidence)	PEX1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD) (601539) Peroxisome biogenesis disorder 1A (Zellweger) (214100) Tags
Red Red List (low evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) (614870) Peroxisome biogenesis disorder 6B (614871) Tags
Red Red List (low evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes ?Peroxisome biogenesis disorder 14B (614920) Tags
Red Red List (low evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 3B (266510) Peroxisome biogenesis disorder 3A (Zellweger) (614859) Tags
Red Red List (low evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 11B (614885) Peroxisome biogenesis disorder 11A (Zellweger) (614883) Tags
Red Red List (low evidence)	PEX14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 13A (Zellweger) (614887) Tags
Red Red List (low evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) (614876) Peroxisome biogenesis disorder 8B (614877) Tags
Red Red List (low evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) (614886) Tags
Red Red List (low evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) (614866) Peroxisome biogenesis disorder 5B (614867) Tags
Red Red List (low evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) (614872) Peroxisome biogenesis disorder 7B (614873) Tags
Red Red List (low evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes ?Peroxisome biogenesis disorder 10B (617370) Peroxisome biogenesis disorder 10A (Zellweger) (614882) Tags
Red Red List (low evidence)	PEX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 2B (202370) Peroxisome biogenesis disorder 2A (Zellweger) (214110) Tags
Red Red List (low evidence)	PEX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (614862) Peroxisome biogenesis disorder 4B (614863) Tags
Red Red List (low evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 9B (614879) Tags
Red Red List (low evidence)	PKD1L1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Heterotaxy, visceral, 8, autosomal (617205) Tags
Red Red List (low evidence)	REN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal tubular dysgenesis (267430) Tags
Red Red List (low evidence)	RSPH4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 11 (612649) Tags
Red Red List (low evidence)	RSPH9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Ciliary dyskinesia, primary, 12 (612650) Tags
Red Red List (low evidence)	SIX5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Branchiootorenal syndrome 2 (610896) Tags
Red Red List (low evidence)	SLC12A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Red Red List (low evidence)	SLC41A1	0 reviews	Unknown	Sources Expert list Phenotypes No OMIM Tags
Red Red List (low evidence)	SLC4A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Renal tubular acidosis, distal, AR (611590) Renal tubular acidosis, distal, AD (179800) Tags
Red Red List (low evidence)	TINF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal dominant 3 (613990) Tags
Red Red List (low evidence)	WRAP53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, autosomal recessive 3 (613988) Tags
No list No list	AHI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 3 (608629) Tags curated_removed
No list No list	ALMS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Phenotypes Alstrom syndrome (203800) Tags curated_removed
No list No list	ANKS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 16 Tags curated_removed
No list No list	ARL13B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Joubert syndrome 8 (612291) Tags curated_removed
No list No list	ARL6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Bardet-Biedl syndrome 1, modifier of} (209900) Bardet-Biedl syndrome 3 (600151) Tags curated_removed
No list No list	B9D2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags curated_removed
No list No list	BBS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 1 (209900) Tags curated_removed
No list No list	BBS10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 10 (615987) Tags curated_removed
No list No list	BBS12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 12 (615989) Tags curated_removed
No list No list	BBS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 2 (615981) Tags curated_removed
No list No list	BBS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 4 (615982) Tags curated_removed
No list No list	BBS5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 5 (615983) Tags curated_removed
No list No list	BBS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 7 (615984) Tags curated_removed
No list No list	BBS9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 9 (615986) Tags curated_removed
No list No list	C2CD3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Orofaciodigital syndrome XIV (615948) Tags curated_removed
No list No list	C5orf42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome VI (277170) Joubert syndrome 17 (614615) Tags curated_removed new-gene-name
No list No list	CEP104	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 25 (616781) Tags curated_removed
No list No list	CEP120	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 31 (617761) Short-rib thoracic dysplasia 13 with or without polydactyly (616300) Tags curated_removed
No list No list	CEP164	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 15 (614845) Tags curated_removed
No list No list	CEP290	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 4 (611134) Joubert syndrome 5 (610188) ?Bardet-Biedl syndrome 14 (615991) Tags curated_removed
No list No list	CEP41	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 15 (614464) Tags curated_removed
No list No list	CEP83	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 18 (615862) Tags curated_removed
No list No list	CSPP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 21 (615636) Tags curated_removed
No list No list	DDX59	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Phenotypes Orofaciodigital syndrome V (174300) Tags curated_removed
No list No list	DYNC2H1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags curated_removed
No list No list	DYNC2LI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (617088) Tags curated_removed
No list No list	EVC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed UKGTN Phenotypes Ellis-van Creveld syndrome (225500) Tags curated_removed
No list No list	EVC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed UKGTN Phenotypes Ellis-van Creveld syndrome (225500) Tags curated_removed
No list No list	HNF1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal cysts and diabetes syndrome (137920) Tags curated_removed
No list No list	HYLS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Removed UKGTN Phenotypes Hydrolethalus syndrome (236680) Tags curated_removed
No list No list	IFT122	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 1 (218330) Tags curated_removed
No list No list	IFT140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly (266920) Tags curated_removed
No list No list	IFT172	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly (615630) Tags curated_removed
No list No list	IFT52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags curated_removed
No list No list	IFT80	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly (611263) Tags curated_removed
No list No list	INPP5E	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 1 (213300) Tags curated_removed
No list No list	INVS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 2, infantile Tags curated_removed
No list No list	IQCB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Senior-Loken syndrome 5 (609254) Tags curated_removed
No list No list	KIAA0586	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 23 (616490) Tags curated_removed
No list No list	KIF7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 12 (200990) Tags curated_removed
No list No list	MAPKBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 20 (617271) Tags curated_removed
No list No list	MKKS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 6 (605231) Tags curated_removed
No list No list	MKS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 28 (617121) Bardet-Biedl syndrome 13 (615990) Meckel syndrome 1 (249000) Tags curated_removed
No list No list	NEK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly (263520) Tags curated_removed
No list No list	NEK8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Nephronophthisis 9 (613824) Renal-hepatic-pancreatic dysplasia 2 (615415) Tags curated_removed
No list No list	NPHP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 1, juvenile (256100) Joubert syndrome 4 (609583) Tags curated_removed
No list No list	NPHP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal-hepatic-pancreatic dysplasia 1 (208540) Nephronophthisis 3 (604387) Meckel syndrome 7 (267010) Tags curated_removed
No list No list	NPHP4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 4 (606966) Tags curated_removed
No list No list	OFD1	2 reviews	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 list Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome I (311200) Joubert syndrome 10 (300804) Tags curated_removed
No list No list	SDCCAG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 16 (615993) Tags curated_removed
No list No list	TCTEX1D2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Tags curated_removed
No list No list	TCTN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 13 (614173) Tags curated_removed
No list No list	TCTN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 24 (616654) ?Meckel syndrome 8 (613885) Tags curated_removed
No list No list	TCTN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 18 (614815) Orofaciodigital syndrome IV (258860) Tags curated_removed
No list No list	TMEM107	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes ?Joubert syndrome 29 (617562) Meckel syndrome 13 (617562) Tags curated_removed
No list No list	TMEM138	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 16 (614465) Tags curated_removed
No list No list	TMEM216	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 2 (608091) Meckel syndrome 2 (603194) Tags curated_removed
No list No list	TMEM231	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 20 (614970) Meckel syndrome 11 (615397) Tags curated_removed
No list No list	TMEM237	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 14 (614424) Tags curated_removed
No list No list	TTC21B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 12 (613820) Tags curated_removed
No list No list	TTC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 8 (615985) Tags curated_removed
No list No list	TXNDC15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed Literature Phenotypes Meckel syndrome Tags curated_removed
No list No list	WDPCP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 15 (615992) Tags curated_removed
No list No list	WDR34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly (615633) Tags curated_removed new-gene-name
No list No list	WDR35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 2 (613610) Short-rib thoracic dysplasia 7 with or without polydactyly (614091) Tags curated_removed

Major version comments

2018-11-30 14:22 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
30th November 2018. Panel reviews were assessed, and panel was revised according to expert reviews, clinical input and additional curation of the evidence.

Ductal plate malformation (Version 1.29)

7 reviewers

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