Genomics England
GMS Panels
Panels
Genes and Entities

Childhood onset dystonia, chorea or related movement disorder (Version: )

Relevant disorders: Childhood onset dystonia or chorea or related movement disorder, R57
Signed off date: 4 Oct 2024
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
192 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
ABAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACBD6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACER3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACOX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACTB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ADAR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADCY5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ALDH18A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ANO3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP1S2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
APTX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARFGEF3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
ARSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARX
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ASL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP13A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP1A3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP5G3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
ATP7B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATXN2_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
BCAP31
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BCS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C19orf12
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CACNA1G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNB4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CAMK4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
CLN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLPB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COASY
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSTB
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
CSTB_CCCCGCCCCGCG
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
DCAF17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHDDS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DLAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ECHS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2AK2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
FA2H
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXO7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FITM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOLR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FOXRED1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FTL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FUCA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FXN
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
FXN_GAA
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
GBA
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GCDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCH1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GJC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GLRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
GRIN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GTPBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HCFC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HECW2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HEXA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNRNPH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HPCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPRT1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HSD17B10
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HSPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HTRA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFIH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
IMPDH2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
IRF2BPL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNMA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNQ2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCTD17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KMT2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
L2HGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MECR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRE11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTFMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFA10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NKX2-1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NKX6-2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP54
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PANK2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE10A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDE2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDGFB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PDHA1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PDHX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PINK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLA2G6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKD
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLR3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKRA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRRT2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QDPR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB39B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RNASEH2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2C
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
RNASET2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNU7-1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, locus-type-rna-small-nuclear
Green
SAMHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN8A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SERAC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SETX
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SGCE
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
SHQ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC16A2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC18A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC20A2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC2A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC30A10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC30A9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A8
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SNORD118
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
SPATA5L1
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, gene-checked
Green
SPR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SQSTM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYNJ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TAF1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
TARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBP_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
TH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
THAP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TIMM8A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TMEM151A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TOR1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TPK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
TSPOAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBB4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UBTF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
VAC14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VAMP1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
VAMP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VPS13A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS13D
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
VPS41
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS4A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
WDR45
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
WDR73
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YIF1B
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
YY1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ZSWIM6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A