Description
This panel is used for clinical indication 'R131 Hypertrophic 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 'R131 Hypertrophic cardiomyopathy - teen and adult'.

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.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

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

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ian Berry (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    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

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • 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

71 Entities

71 reviewed, 17 green

List Entity Reviews Mode of inheritance Details
71 Entitiess
Green Green List (high evidence)
ACTC1
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 11
  • Atrial septal defect 5 (612794)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Cardiomyopathy, dilated, 1R (613424)
  • Hypertrophic Cardiomyopathy
Tags
Green Green List (high evidence)
CSRP3
7 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 12 (612124)
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, familial hypertrophic, 12
Tags
Green Green List (high evidence)
FHL1
6 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
  • Myopathy, X-linked, with postural muscle atrophy (300696)
  • ?Uruguay faciocardiomusculoskeletal syndrome (300280)
  • Scapuloperoneal myopathy, X-linked dominant (300695)
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
  • Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Tags
Green Green List (high evidence)
GLA
6 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Fabry disease (301500)
  • syndromic HCM
  • Fabry disease, cardiac variant (301500)
Tags
Green Green List (high evidence)
LAMP2
6 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Danon disease (300257)
  • syndromic HCM
Tags
Green Green List (high evidence)
LZTR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy-associated cardiomyopathy
Tags
Green Green List (high evidence)
MYBPC3
6 reviews
4 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
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 4,
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM (615396)
Tags
Green Green List (high evidence)
MYH7
6 reviews
4 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
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Left ventricular noncompaction 5 (613426)
  • Myopathy, myosin storage, autosomal dominant (608358)
  • Laing distal myopathy (160500)
  • Myopathy, myosin storage, autosomal recessive (255160)
  • Cardiomyopathy, hypertrophic, 1 (192600)
  • Cardiomyopathy, dilated, 1S (613426)
  • Scapuloperoneal syndrome, myopathic type (181430)
  • Cardiomyopathy, familial hypertrophic, 1,
Tags
Green Green List (high evidence)
MYL2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
  • Cardiomyopathy, familial hypertrophic, 10 (608758)
Tags
Green Green List (high evidence)
MYL3
6 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8,
  • Cardiomyopathy, familial hypertrophic, 8 (608751)
Tags
Green Green List (high evidence)
PLN
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 18,
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
Green Green List (high evidence)
PRKAG2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Wolff-Parkinson-White syndrome (194200)
  • syndromic HCM
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • Cardiomyopathy, familial hypertrophic 6,
  • Cardiomyopathy, familial hypertrophic 6 (600858)
  • Glycogen storage disease of heart, lethal congenital (261740)
Tags
Green Green List (high evidence)
TNNC1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 13,
  • Cardiomyopathy, dilated, 1Z (611879)
  • Cardiomyopathy, hypertrophic, 13 (613243)
Tags
Green Green List (high evidence)
TNNI3
6 reviews
4 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
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 7
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, hypertrophic, 7 (613690)
Tags
Green Green List (high evidence)
TNNT2
6 reviews
4 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
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial restrictive, 3 (612422)
  • Cardiomyopathy, hypertrophic, 2 (115195)
  • Cardiomyopathy, dilated, 1D (601494)
  • Cardiomyopathy, familial hypertrophic, 2
  • Left ventricular noncompaction 6 (601494)
Tags
Green Green List (high evidence)
TPM1
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Left ventricular noncompaction 9 ( 611878)
  • Cardiomyopathy, hypertrophic, 3 (115196)
  • Cardiomyopathy, familial hypertrophic, 3
  • Cardiomyopathy, dilated, 1Y (611878)
Tags
Green Green List (high evidence)
TTR
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiac amyloidosis
Tags
  • treatable
Amber Amber List (moderate evidence)
ACTN2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • South West GLH
  • UKGTN
  • Wessex and West Midlands GLH
Tags
Amber Amber List (moderate evidence)
FLNC
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Oxford Medical Genetics Laboratory
  • South West GLH
  • Wessex and West Midlands GLH
Tags
  • watchlist
Amber Amber List (moderate evidence)
JPH2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic 17,
Tags
  • watchlist
Amber Amber List (moderate evidence)
MT-TI
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
Tags
Amber Amber List (moderate evidence)
MYLK2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, digenic (192600)
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
Tags
Amber Amber List (moderate evidence)
MYPN
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomypathy, familial hypertrophic, 22,
Tags
Amber Amber List (moderate evidence)
NEXN
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1CC (613122)
  • Cardiomyopathy, familial hypertrophic, 20,
  • Cardiomyopathy, hypertrophic, 20 (613876)
Tags
Red Red List (low evidence)
ACADVL
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
ACTA1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
AGL
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
ANKRD1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • London South GLH
  • South West GLH
  • UKGTN
Tags
Red Red List (low evidence)
ATP5E
3 reviews
1 red
Unknown
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
  • new-gene-name
Red Red List (low evidence)
BRAF
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
CACNA1C
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
Tags
Red Red List (low evidence)
CALR3
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 19
Tags
Red Red List (low evidence)
CASQ2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Left ventricular non-compaction
  • Catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
CAV3
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic,
Tags
Red Red List (low evidence)
COA5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
CRYAB
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha ‐ B crystallin ‐ related, 613869"
Tags
Red Red List (low evidence)
DES
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
FOXRED1
2 reviews
1 red
Unknown
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
FXN
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
GAA
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • London South GLH
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
GLB1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
GUSB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
HRAS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
KCNQ1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Short QT syndrome
Tags
Red Red List (low evidence)
KLF10
2 reviews
1 red
Unknown
Sources
  • Literature
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
LDB3
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • London South GLH
  • South West GLH
Tags
Red Red List (low evidence)
LMNA
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • South West GLH
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
Tags
Red Red List (low evidence)
MAP2K1
2 reviews
1 red
Unknown
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
MAP2K2
2 reviews
1 red
Unknown
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
MRPL3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
MT-TL1
2 reviews
1 red
MITOCHONDRIAL
Sources
  • Expert Review
  • South West GLH
Tags
Red Red List (low evidence)
MYH6
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, dilated, 1EE (613252)
  • Atrial septal defect 3 (614089)
  • {Sick sinus syndrome 3} (614090)
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, familial hypertrophic, 14
Tags
Red Red List (low evidence)
MYO6
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
MYOM1
2 reviews
Unknown
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
MYOZ2
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 16,
Tags
Red Red List (low evidence)
NRAS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
PDLIM3
2 reviews
1 red
Unknown
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
PTPN11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
RAF1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
SCO2
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
SHOC2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
SLC25A3
5 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Expert list
  • South West GLH
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
Tags
Red Red List (low evidence)
SLC25A4
3 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • North West GLH
  • South West GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
SOS1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
TCAP
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Tags
Red Red List (low evidence)
TMEM70
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
TRIM63
2 reviews
Unknown
Sources
  • Literature
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
TSFM
5 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Red Red List (low evidence)
TTN
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 9,
Tags
Red Red List (low evidence)
VCL
3 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, hypertrophic, 15 (613255)
Tags
No list No list
FXN_GAA
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR

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