Description
This panel is used for clinical indication 'R132 Dilated cardiomyopathy - teen and adult' 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 'R132 Dilated cardiomyopathy - teen and adult'.

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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/652/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (09/12/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Kate Thomson (Oxford University Hospitals Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Whittington (South West GLH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

50 Entities

50 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
50 Entitiess
Green Green List (high evidence)
ACTC1
7 reviews
3 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, dilated, 1R (613424)
  • Cardiomyopathy, dilated, 1R
  • Atrial septal defect 5 (612794)
Tags
Green Green List (high evidence)
ACTN2
8 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
  • Cardiomyopathy, dilated, 1AA, with or without LVNC (612158)
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
BAG3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1HH, 613881
  • Myopathy, myofibrillar, 6, 612954
Tags
Green Green List (high evidence)
CDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DES
8 reviews
4 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
  • Myopathy, myofibrillar, 1 (601419)
  • Cardiomyopathy, dilated, 1I, (604765)
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DMD
2 reviews
2 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
  • Literature
  • NHS GMS
Phenotypes
  • Becker muscular dystrophy, 300376
  • Cardiomyopathy, dilated, 3B, 302045
  • Duchenne muscular dystrophy, 310200
Tags
Green Green List (high evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DSC2
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 (610476)
Tags
Green Green List (high evidence)
DSG2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
  • Cardiomyopathy, dilated, 1BB (612877)
Tags
Green Green List (high evidence)
DSP
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic (609638)
  • Skin fragility-woolly hair syndrome (607655)
  • Arrhythmogenic right ventricular dysplasia 8
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
  • Arrhythmogenic right ventricular dysplasia 8 (607450)
  • Keratosis palmoplantaris striata II (612908)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
Tags
Green Green List (high evidence)
EMD
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
FLNC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • arrythmogenic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 26
  • Cardiomyopathy, familial restrictive 5
  • Myopathy, myofibrillar, 5
Tags
Green Green List (high evidence)
JUP
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Naxos disease (601214)
  • Arrhythmogenic right ventricular dysplasia 12
  • Arrhythmogenic right ventricular dysplasia 12 (611528)
Tags
Green Green List (high evidence)
LAMP2
2 reviews
2 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
  • Literature
  • NHS GMS
Phenotypes
  • Danon disease (300257)
Tags
Green Green List (high evidence)
LMNA
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Muscular dystrophy, congenital (613205)
  • Malouf syndrome (212112)
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
  • Heart-hand syndrome, Slovenian type (610140)
  • Hutchinson-Gilford progeria (176670)
  • Cardiomyopathy, dilated, 1A (115200)
  • Restrictive dermopathy, lethal (275210)
  • Lipodystrophy, familial partial, type 2 (151660)
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
  • Charcot-Marie-Tooth disease, type 2B1 (605588)
  • Mandibuloacral dysplasia (248370)
  • Cardiomyopathy, dilated, 1A
Tags
Green Green List (high evidence)
MYBPC3
7 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1MM
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM (615396)
Tags
Green Green List (high evidence)
MYH7
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1S (613426)
  • Cardiomyopathy, dilated, 1S
  • Myopathy, myosin storage, autosomal recessive (255160)
  • Scapuloperoneal syndrome, myopathic type (181430)
  • Myopathy, myosin storage, autosomal dominant (608358)
  • Cardiomyopathy, hypertrophic, 1 (192600)
  • Left ventricular noncompaction 5 (613426)
  • Laing distal myopathy (160500)
Tags
Green Green List (high evidence)
NEXN
8 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1CC (613122)
  • Cardiomyopathy, hypertrophic, 20 (613876)
  • Cardiomyopathy, dilated, 1CC
Tags
Green Green List (high evidence)
NKX2-5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
PKP2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
Tags
Green Green List (high evidence)
PLN
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, dilated, 1P
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
Green Green List (high evidence)
RBM20
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1DD
  • Cardiomyopathy, dilated, 1DD (613172)
Tags
Green Green List (high evidence)
RYR2
10 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Tags
Green Green List (high evidence)
SCN5A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1E
Tags
Green Green List (high evidence)
TMEM43
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5
  • Arrhythmogenic right ventricular dysplasia 5 (604400)
  • Emery-Dreifuss muscular dystrophy 7, AD (614302)
Tags
Green Green List (high evidence)
TNNC1
7 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 13 (613243)
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, dilated, 1Z (611879)
Tags
Green Green List (high evidence)
TNNI3
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, dilated, 2A,
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, hypertrophic, 7 (613690)
Tags
Green Green List (high evidence)
TNNI3K
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
TNNT2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1D
  • Cardiomyopathy, familial restrictive, 3 (612422)
  • Cardiomyopathy, hypertrophic, 2 (115195)
  • Cardiomyopathy, dilated, 1D (601494)
  • Left ventricular noncompaction 6 (601494)
Tags
Green Green List (high evidence)
TPM1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1Y
  • Cardiomyopathy, dilated, 1Y (611878)
  • Cardiomyopathy, hypertrophic, 3 (115196)
  • Left ventricular noncompaction 9 ( 611878)
Tags
Green Green List (high evidence)
TTN
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Myopathy, proximal, with early respiratory muscle involvement (603689)
  • Cardiomyopathy, familial hypertrophic, 9 (613765)
  • Tibial muscular dystrophy, tardive (600334)
  • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
  • Cardiomyopathy, dilated, 1G (604145)
  • Salih myopathy (611705)
  • Cardiomyopathy, dilated, 1G
Tags
Green Green List (high evidence)
VCL
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1W
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, hypertrophic, 15 (613255)
Tags
Amber Amber List (moderate evidence)
ANK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ANKRD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CRYAB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CSRP3
7 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
Tags
Amber Amber List (moderate evidence)
FKRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
FKTN
7 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Dilated Cardiomyopathy, Recessive
  • Cardiomyopathy, dilated, 1X
Tags
Amber Amber List (moderate evidence)
GATA6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
LDB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
MYH6
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, dilated, 1EE (613252)
  • {Sick sinus syndrome 3} (614090)
  • Atrial septal defect 3 (614089)
  • Cardiomyopathy, dilated, 1EE
Tags
Amber Amber List (moderate evidence)
MYPN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
PRDM16
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
SGCD
6 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)
  • Cardiomyopathy, dilated, 1L
  • Cardiomyopathy, dilated, 1L (606685)
Tags
Amber Amber List (moderate evidence)
TBX20
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
TCAP
6 reviews
1 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Cardiomyopathy, dilated, 1N
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Tags
Red Red List (low evidence)
ABCC9
7 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, dilated, 1O (608569)
  • Dilated Cardiomyopathy, Dominant
  • Cardiomyopathy, dilated, 1O
  • Atrial fibrillation, familial, 12 (614050)
Tags
Red Red List (low evidence)
EYA4
7 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1J (605362)
  • Cardiomyopathy, dilated, 1J
  • Deafness, autosomal dominant 10 (601316)
Tags
Red Red List (low evidence)
FHOD3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
GATAD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags

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