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

There is a more recent signed-off version of this panel
Relevant disorders: R57, Childhood onset dystonia, chorea or related movement disorder
Signed off date: 30 Nov 2022
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
170 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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ABAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACOX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACTB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ADAR
BIALLELIC, autosomal or pseudoautosomalN/AQ4_22_MOI
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ADCY5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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AFG3L2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_21_rating, Q2_21_phenotype, to_be_confirmed_NHSE
Green
ALDH18A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ANO3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP1S2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ4_21_MOI
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APTX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATP13A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ATP1A3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ATP7B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATXN2_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
BCAP31
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BCS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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C19orf12
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CACNA1G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CACNB4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CAMK4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
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CLN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLN5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLPB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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COASY
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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CSTB
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
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CSTB_CCCCGCCCCGCG
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
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DCAF17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DHDDS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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DLAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DLD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DNAJC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ECHS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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EIF2AK2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
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FA2H
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FBXO7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FITM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FOLR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FOXG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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FOXRED1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FTL
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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FUCA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FXN
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
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GBA
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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GCDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GCH1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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GJC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GLB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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GLRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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GNAO1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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GNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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GRIN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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GTPBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HCFC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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HEXA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HIBCH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HNRNPH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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HPCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HPRT1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HSPD1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_22_MOI
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HTRA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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IFIH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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IMPDH2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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IRF2BPL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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KCNA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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KCNMA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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KCNQ2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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KCTD17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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KIF1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KMT2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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LRPPRC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MECR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MED27
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MRE11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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
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NDUFA10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFAF6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFS4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFS7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NDUFV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NGLY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NKX2-1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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NKX6-2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NPC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OCLN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OPA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PANK2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PCCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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
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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
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POLR3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKRA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRNP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
Green
SAMHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SCN8A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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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
SLC16A2
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
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
SPR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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SUCLA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SUOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYNJ1
BIALLELIC, autosomal or pseudoautosomalN/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
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
TOR1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_22_MOI
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
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