Genomics England
GMS Panels
Panels
Genes and Entities

Paediatric or syndromic cardiomyopathy (Version: )

Relevant disorders: Cardiomyopathies - including childhood onset, R135
Signed off date: 6 Dec 2023
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
See this panel in PanelApp
112 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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AARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ABCC9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ACAD9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACADVL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACTA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ACTC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ACTN2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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AGK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALMS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALPK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BAG3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CACNA1C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CDH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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COA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COX10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COX15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CPT2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CSRP3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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DES
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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DMD
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
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DNAJC19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DOLK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DSC2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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DSG2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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DSP
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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EMD
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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EPG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FHL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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FHOD3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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FKTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FLNC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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GAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GUSB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HADHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HADHB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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IDH2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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IDUA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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JPH2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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JUP
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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KRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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LAMP2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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LMNA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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LMOD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LZTR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MAP2K1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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MAP2K2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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MLYCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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MRPL44
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MUT
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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MYBPC3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MYH6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MYH7
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MYL2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MYL3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MYLK3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
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MYPN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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NDUFA11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFAF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB11
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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NDUFS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFV2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NEXN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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NKX2-5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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NONO
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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NRAP
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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NRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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PCCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PCCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PKP2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PLD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PLN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PPA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PPCS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PPP1CB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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PPP1R13L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PRKAG2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PTPN11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
RAF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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RBM20
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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RIT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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RRAGC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RRAGD
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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RYR2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SCN5A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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SCO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHOC2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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SLC22A5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ4_23_MOI
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SLC25A20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SOS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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SOS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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SPEG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SPRED2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAZ
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TBX20
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TMEM43
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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TMEM70
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNNC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNI3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TNNI3K
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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TNNT2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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TPM1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TSFM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TTR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
VCL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A