Genomics England
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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: 30 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
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ABAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACBD6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACER3
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ADCY5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ALDH18A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ANO3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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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
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APTX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARFGEF3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
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ARSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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
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ASL
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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ATP5G3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
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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
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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
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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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COX20
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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DNAJC6
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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FXN_GAA
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
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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
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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
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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
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HCFC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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HECW2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
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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
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HSPD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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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L2HGDH
BIALLELIC, autosomal or pseudoautosomalN/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
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
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NDUFA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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
Green
NKX6-2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NPC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NUP54
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
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
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PET100
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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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
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PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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POLR3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PRKN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PRKRA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRRT2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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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
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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
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