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.

7 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

132 genes

132 reviewed, 27 green

List Gene Reviews Mode of inheritance Details
132 genes
Green Green List (high evidence)
C21orf2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Jeune/Axial Spondylomethaphyseal dysplasia
  • Axial Spondylometaphyseal Dysplasia 602271
Green Green List (high evidence)
C2CD3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OROFACIODIGITAL SYNDROME XIV
  • OFD14, #615948
Green Green List (high evidence)
CEP120
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Green Green List (high evidence)
CSPP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Green Green List (high evidence)
DYNC2H1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
Green Green List (high evidence)
DYNC2LI1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
  • SRTD15 #617088
Green Green List (high evidence)
EVC
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Ellis-van Creveld Syndrome
  • Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
Green Green List (high evidence)
EVC2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ellis-van Creveld syndrome
Green Green List (high evidence)
HYLS1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • HYDROLETHALUS SYNDROME 1
  • HLS1, # 236680
Green Green List (high evidence)
ICK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Endocrine-cerebroosteodysplasia 612651
  • ORPHA:199332 Endocrine-cerebro-osteodysplasia syndrome
Green Green List (high evidence)
IFT122
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CED
Green Green List (high evidence)
IFT140
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mainzer-Saldino Syndrome
  • Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
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
Green Green List (high evidence)
IFT43
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Cranioectodermal dysplasia 3 614099
Green Green List (high evidence)
IFT52
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Green Green List (high evidence)
IFT80
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
Green Green List (high evidence)
IFT81
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short-Rib Polydactyly Syndrome
Green Green List (high evidence)
KIAA0586
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546
Green Green List (high evidence)
KIF7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • ACROCALLOSAL SYNDROME, ACLS / JOUBERT SYNDROME 12 #200990
Green Green List (high evidence)
NEK1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Short rib-polydactyly syndrome, type IIA, 263520
  • Short Rib Polydactyly Syndrome
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
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • OROFACIODIGITAL SYNDROME I, OFD1 #311200
Green Green List (high evidence)
TCTEX1D2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
  • Jeune Asphyxiating Thoracic Dystrophy
Green Green List (high evidence)
TTC21B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Asphyxiating Thoracic Dystrophy
  • Nephronophthisis 12, 613820
Green Green List (high evidence)
WDR19
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Asphyxiating thoracic dystrophy 5, 614376
Green Green List (high evidence)
WDR34
4 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
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
Green Green List (high evidence)
WDR60
4 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
Amber Amber List (moderate evidence)
DDX59
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 Amber
Phenotypes
  • SRPS
Amber Amber List (moderate evidence)
TMEM107
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Meckel-Gruber syndrome
  • Orofaciodigital syndrome
Red Red List (low evidence)
ACVR2B
3 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Red Red List (low evidence)
ADGRV1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
AHI1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
AIPL1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ARL13B
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ARL6
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ATXN10
3 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
B9D1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
B9D2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS10
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS12
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS4
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS5
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS7
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS9
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
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
  • Expert Review Red
  • Emory Genetics Laboratory
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
Red Red List (low evidence)
CCDC28B
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CCDC39
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CCDC40
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CDH23
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CEP164
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CEP290
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CEP41
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CFTR
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CLRN1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CRB1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CRELD1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CRX
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAAF1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAAF2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAAF3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAH11
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAH5
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAI1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAI2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAL1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
FOXH1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
GDF1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
GLIS2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
GUCY2D
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
IMPDH1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
INVS
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
IQCB1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
KCNJ13
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LCA5
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LEFTY2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LRAT
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
MKKS
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
MKS1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
MYO7A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NEK8
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NKX2-5
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NME8
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NODAL
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NPHP1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NPHP3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NPHP4
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
PCDH15
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
PKD2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
PKHD1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RD3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RDH12
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPE65
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPGR
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPGRIP1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPGRIP1L
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RSPH4A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RSPH9
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SCLT1
3 reviews
2 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • Orofaciodigital syndrome
Red Red List (low evidence)
SCNN1A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SCNN1B
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SCNN1G
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SDCCAG8
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SPATA7
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TBC1D32
3 reviews
2 red
Not set
Sources
Phenotypes
  • OFD
Red Red List (low evidence)
TCTN1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TCTN2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TMEM138
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TMEM216
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TMEM231
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TMEM237
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TMEM67
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TOPORS
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TRIM32
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TSC1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TSC2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TTC8
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TULP1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
UMOD
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USH1C
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USH1G
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USH2A
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
VHL
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
WDPCP
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
WHRN
3 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
XPNPEP3
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ZIC3
3 reviews
1 green 2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
  • VACTERLX
Red Red List (low evidence)
ZNF423
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory

1 STR

1 reviewed, 0 green

List STR Reviews Mode of inheritance Details
1 STRs
Red Red List (low evidence)
ATXN10_ATTCT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia , 603516
Tags
  • STR

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