Description
This panel is used for clinical indication 'R173 Polycystic liver disease' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R173 Polycystic liver disease'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed 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

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.

3 reviewers

  • 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

149 Entities

53 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
149 Entitiess
Green Green List (high evidence)
ALG8
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic Liver Disease 3 (617874)
  • Congenital disorder of glycosylation, type Ih (608104)
Tags
Green Green List (high evidence)
GANAB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • 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
  • 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 Review Green
  • Expert list
  • 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
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • 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
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Liver Disease 1 with or without kidney cysts (174050)
Tags
Green Green List (high evidence)
SEC63
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • 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 Review Green
  • Expert list
  • 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)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Literature
Phenotypes
  • Portal hypertension, noncirrhotic (617068)
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 7 (611560)
  • Meckel syndrome 5 (611561)
  • COACH syndrome (216360)
Tags
Amber Amber List (moderate evidence)
B9D1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Meckel syndrome 9 (614209)
  • Joubert syndrome 27 (617120)
Tags
  • watchlist
Amber Amber List (moderate evidence)
RTEL1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Literature
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 Review Amber
  • Expert list
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
  • 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
Phenotypes
  • {Dyskeratosis congenita, autosomal recessive 4} (613989)
  • {Dyskeratosis congenita, autosomal dominant 2} (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 (616553)
  • ?Dyskeratosis congenita, autosomal recessive 7 (616553)
Tags
Red Red List (low evidence)
AGT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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 Review Red
  • Expert list
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to} (601331)
Tags
Red Red List (low evidence)
BSND
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 20 (615067)
Tags
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
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bartter syndrome, type 3 (607364)
  • Bartter syndrome, type 4b, digenic (613090)
Tags
Red Red List (low evidence)
CLDN16
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CPT II deficiency, infantile (600649)
  • CPT II deficiency, lethal neonatal (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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alagille syndrome 1 (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 (616258)
Tags
Red Red List (low evidence)
LRRC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 19 (614935)
Tags
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 Review Red
  • Expert list
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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Gitelman syndrome (263800)
Tags
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 Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 3 (608629)
Tags
No list No list
ALMS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
Phenotypes
  • Alstrom syndrome (203800)
Tags
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
No list No list
ARL13B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Joubert syndrome 8 (612291)
Tags
No list No list
ARL6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • 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
No list No list
B9D2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 34 (614175)
  • ?Meckel syndrome 10 (614175)
Tags
No list No list
BBS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 1 (209900)
Tags
No list No list
BBS10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 10 (615987)
Tags
No list No list
BBS12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 12 (615989)
Tags
No list No list
BBS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 2 (615981)
Tags
No list No list
BBS4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 4 (615982)
Tags
No list No list
BBS5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 5 (615983)
Tags
No list No list
BBS7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 7 (615984)
Tags
No list No list
BBS9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 9 (615986)
Tags
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
No list No list
C5orf42
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome VI (277170)
  • Joubert syndrome 17 (614615)
Tags
  • 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
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
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
No list No list
CEP290
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • 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
No list No list
CEP41
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 15 (614464)
Tags
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
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
No list No list
DDX59
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome V (174300)
Tags
No list No list
DYNC2H1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly (613091)
Tags
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
No list No list
EVC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • UKGTN
Phenotypes
  • Ellis-van Creveld syndrome (225500)
Tags
No list No list
EVC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • UKGTN
Phenotypes
  • Ellis-van Creveld syndrome (225500)
Tags
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
No list No list
HYLS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Hydrolethalus syndrome (236680)
Tags
No list No list
IFT122
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 1 (218330)
Tags
No list No list
IFT140
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly (266920)
Tags
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
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 (617102)
Tags
No list No list
IFT80
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly (611263)
Tags
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
No list No list
INVS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 2, infantile
Tags
No list No list
IQCB1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Senior-Loken syndrome 5 (609254)
Tags
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
No list No list
KIF7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 12 (200990)
Tags
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
No list No list
MKKS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 6 (605231)
Tags
No list No list
MKS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • 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
No list No list
NEK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly (263520)
Tags
No list No list
NEK8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Nephronophthisis 9 (613824)
  • Renal-hepatic-pancreatic dysplasia 2 (615415)
Tags
No list No list
NPHP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 1, juvenile (256100)
  • Joubert syndrome 4 (609583)
Tags
No list No list
NPHP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • 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
No list No list
NPHP4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 4 (606966)
Tags
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 Review Removed
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome I (311200)
  • Joubert syndrome 10 (300804)
Tags
No list No list
SDCCAG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 16 (615993)
Tags
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 (617405)
Tags
No list No list
TCTN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 13 (614173)
Tags
No list No list
TCTN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 24 (616654)
  • ?Meckel syndrome 8 (613885)
Tags
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
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
No list No list
TMEM138
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 16 (614465)
Tags
No list No list
TMEM216
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 2 (608091)
  • Meckel syndrome 2 (603194)
Tags
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
No list No list
TMEM237
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 14 (614424)
Tags
No list No list
TTC21B
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 12 (613820)
Tags
No list No list
TTC8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 8 (615985)
Tags
No list No list
TXNDC15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • Literature
Phenotypes
  • Meckel syndrome
Tags
No list No list
WDPCP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 15 (615992)
Tags
No list No list
WDR34
0 reviews
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
No list No list
WDR35
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
  • 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

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