Ataxia and cerebellar anomalies - narrow panel (Version 2.39)

Version 2.23 of this panel was signed-off for the GMS. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panels 'Hereditary ataxia and cerebellar anomalies - childhood onset', 'Cerebral malformations' & 'Movement disorders - childhood onset'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 2.23: https://panelapp.genomicsengland.co.uk/api/v1/panels/477/?version=2.23) was signed off under NHS Genomic Medicine Service governance on (08/10/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.

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 created from the following gene panels:
- Hereditary ataxia (v1.148, code 20)
- Cerebellar hypoplasia (v1.25, code 286)

For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Changes made to this panel will automatically be updated in the relevant super panel(s).
This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

Panel Activity

7 reviewers

Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

264 Entities

85 reviewed, 147 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 264 Entitiess
Green Green List (high evidence)	AAAS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Green Green List (high evidence)	ABCB7	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia Tags
Green Green List (high evidence)	ABHD12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Tags
Green Green List (high evidence)	ADGRG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polymicrogyria, bilateral frontoparietal 606854 Tags
Green Green List (high evidence)	AFG3L2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 28 Spinocerebellar Ataxia, Dominant Ataxia, spastic, 5, autosomal recessive Tags
Green Green List (high evidence)	AMPD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). pontocerebellar hypoplasia type 9, 615809 Pontocerebellar hypoplasia 9 (#615809) Tags
Green Green List (high evidence)	ANO10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, Tags
Green Green List (high evidence)	AP1S2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Mental retardation, X-linked syndromic 5, 304340 Tags
Green Green List (high evidence)	APTX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with Oculomotor Apraxia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Tags
Green Green List (high evidence)	ARSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metachromatic leukodystrophy (#250100) Tags
Green Green List (high evidence)	ATCAY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia, cerebellar, Cayman type Cerebellar Ataxia, Cayman type Tags
Green Green List (high evidence)	ATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia-telangiectasia, Ataxia-Telangiectasia Tags
Green Green List (high evidence)	ATP1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) Tags
Green Green List (high evidence)	ATXN2_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 2 183090 Tags STR
Green Green List (high evidence)	ATXN7_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 7 164500 Tags STR
Green Green List (high evidence)	B3GALNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11 congenital muscular dystrophies Tags
Green Green List (high evidence)	CA8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Tags
Green Green List (high evidence)	CACNA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Spinocerebellar ataxia 6 Episodic ataxia, type 2 Tags
Green Green List (high evidence)	CACNA1G	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 42 616795 Tags
Green Green List (high evidence)	CAMTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Cerebellarataxia, nonprogressive, with mental retardation, 614756 Tags
Green Green List (high evidence)	CASK	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes FG syndrome 4, 300422 Mental retardation, with or without nystagmus Mental retardation and microcephaly with pontine and cerebellar hypoplasia Pontocerebellar Hypoplasia FG syndrome 4 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Mental retardation, with or without nystagmus, 300422 Tags
Green Green List (high evidence)	CHMP1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Green Green List (high evidence)	CLCN2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 Leukoencephalopathy with ataxia, 615651 Tags
Green Green List (high evidence)	CLN6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green Green List (high evidence)	COQ8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary 4, 612016 Spinocerebellar Ataxia Type Tags
Green Green List (high evidence)	COX20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	CP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Tags STR
Green Green List (high evidence)	CTBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Tags missense
Green Green List (high evidence)	CWF19L1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Tags
Green Green List (high evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP2U1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. Tags
Green Green List (high evidence)	DARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DDHD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. Tags
Green Green List (high evidence)	DKC1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked dyskeratosis congenita Tags
Green Green List (high evidence)	DNAJC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V Tags
Green Green List (high evidence)	DNAJC5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type Tags
Green Green List (high evidence)	DNMT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Tags
Green Green List (high evidence)	EIF2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Tags
Green Green List (high evidence)	EIF2B2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	ELOVL4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 34 Tags
Green Green List (high evidence)	EPM2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) Tags
Green Green List (high evidence)	EXOSC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar Hypoplasia Pontocerebellar hypoplasia, type 1B, 614678 Pontocerebellar Hypoplasia type 1B Tags
Green Green List (high evidence)	FGF14	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 27 Tags
Green Green List (high evidence)	FKRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fukuyama Congenital Muscular Dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Fukuyama congenital muscular dystrophy Tags
Green Green List (high evidence)	FLVCR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa Ataxia, posterior column, with retinitis pigmentosa, Tags
Green Green List (high evidence)	FMR1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) males with a tremor phenotype FragileXtremor/ataxiasyndrome,300623 Tags
Green Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Tags
Green Green List (high evidence)	FXN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 Tags
Green Green List (high evidence)	FXN_GAA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Friedreich ataxia 229300 Tags STR
Green Green List (high evidence)	GBA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green Green List (high evidence)	GFAP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Autosomal Dominant Ataxia Alexander disease Tags
Green Green List (high evidence)	GJC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Tags
Green Green List (high evidence)	GMPPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	GOSR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Green Green List (high evidence)	GPAA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GRID2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 13 Tags
Green Green List (high evidence)	HEXA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness 176270 105831 Angelman syndrome Prader-Willi syndrome Mental retardation Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636 chromosome 15q11-q13 duplication syndrome Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness 176270 Angelman syndrome Prader-Willi syndrome 105830 Mental retardation Tags
Green Green List (high evidence)	ISPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	ITPR1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 29 Gillespie syndrome 206700 Spinocerebellar ataxia 15 Spinocerebellar ataxia 29, congenital nonprogressive Tags
Green Green List (high evidence)	KCNA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Episodic ataxia/myokymia syndrome, Tags
Green Green List (high evidence)	KCNC3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 13 Tags
Green Green List (high evidence)	KCND3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Spinocerebellarataxia19,607346 Tags
Green Green List (high evidence)	KCNJ10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Tags
Green Green List (high evidence)	KIF1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia 2,autosomal recessive Tags
Green Green List (high evidence)	LARGE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	MARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia 3, autosomal recessive Tags
Green Green List (high evidence)	MMACHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia and hypogonadism Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green Green List (high evidence)	MORC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Axonal type CMT disease type 2Z, 616688 Tags
Green Green List (high evidence)	MRE11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia-telangiectasia-like disorder Ataxia-Telangiectasia-Like Disorder Tags
Green Green List (high evidence)	MT-ATP6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes Neuropathy, Ataxia, and Retinitis Pigmentosa Tags
Green Green List (high evidence)	MTTP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Abetalipoproteinemia, 200100 Tags
Green Green List (high evidence)	NHLRC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) Tags
Green Green List (high evidence)	NKX6-2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	NPC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease types C1 and D (#257220) Tags
Green Green List (high evidence)	NPC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	OPA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Costeff syndrome 3-methylglutaconic aciduria, type III, 258501 Tags
Green Green List (high evidence)	OPHN1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Tags
Green Green List (high evidence)	PAX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Green Green List (high evidence)	PDYN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 23 Tags
Green Green List (high evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Tags
Green Green List (high evidence)	PLA2G6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1 (#256600) Parkinson disease 14 (#612953) Neurodegeneration with brain iron accumulation 2B (#610217) Tags
Green Green List (high evidence)	PMPCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 2 213200 AR Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. Tags
Green Green List (high evidence)	PNKP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with oculomotor apraxia 4 (#616267) Tags
Green Green List (high evidence)	PNPLA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Oliver-McFarlane syndrome (#603197) Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Tags
Green Green List (high evidence)	POLG	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Tags
Green Green List (high evidence)	POLR3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Autosomal Recessive Ataxia Tags
Green Green List (high evidence)	POMGNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMGNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type Tags
Green Green List (high evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green Green List (high evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	PRKCG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 14 Tags
Green Green List (high evidence)	PRNP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Creutzfeldt-Jakob disease Autosomal Dominant Ataxia Gerstmann-Straussler disease Huntington disease-like 1 Insomnia, fatal familial Tags
Green Green List (high evidence)	PRRT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Episodic kinesigenic dyskinesia 1, 128200 Seizures, benign familial infantile, 2, 605751 Tags
Green Green List (high evidence)	PTF1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pancreatic and cerebellar agenesis, 609069 Tags
Green Green List (high evidence)	RARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes epilepsy Pontocerebellar hypoplasia, type 6, 611523 Pontocerebellar Hypoplasia type 6 Pontocerebellar hypoplasia Pontocerebellar Hypoplasia Tags
Green Green List (high evidence)	RELN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 2, 257320 Tags
Green Green List (high evidence)	RNF170	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ataxia, sensory, 1, autosomal dominant Tags
Green Green List (high evidence)	RNF216	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green Green List (high evidence)	ROBO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1 Tags
Green Green List (high evidence)	SACS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Tags
Green Green List (high evidence)	SAR1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chylomicron retention disease Tags
Green Green List (high evidence)	SEPSECS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar Hypoplasia Pontocerebellar hypoplasia type 2D (613811) Pontocerebellar hypoplasia type 2D, 613811 Pontocerebellar Hypoplasia type 2D Tags
Green Green List (high evidence)	SETX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia-ocular apraxia-2 ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia Tags
Green Green List (high evidence)	SIL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SLC1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Episodic ataxia, type 6, Tags
Green Green List (high evidence)	SLC2A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia 9, 601042 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 Tags
Green Green List (high evidence)	SLC9A6	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green Green List (high evidence)	SNX14	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia (#616354) Spinocerebellar ataxia, autosomal recessive 20, 616354 Tags
Green Green List (high evidence)	SPG7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia Tags
Green Green List (high evidence)	SPTBN2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 5 (AD) Spinocerebellar ataxia, autosomal recessive 14 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 Spinocerebellar Ataxia, Dominant Spinocerebellar ataxia, autosomal recessive 14 (AR) Spinocerebellar ataxia 5 SPINOCEREBELLAR ATAXIA 5 (autosomal dominant) Tags
Green Green List (high evidence)	SRD5A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Green Green List (high evidence)	STUB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 16 Spinocerebellar ataxia, autosomal recessive 16 615768 Tags
Green Green List (high evidence)	SYNE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar Ataxia Spinocerebellar ataxia, autosomal recessive 8 Tags
Green Green List (high evidence)	TGM6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Green Green List (high evidence)	TINF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 3 613990 Tags
Green Green List (high evidence)	TMEM240	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green Green List (high evidence)	TMEM5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	TOE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 7 614969 Tags
Green Green List (high evidence)	TPP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia 7 (#607998) Neuronal ceroid lipfuscinosis 7 (204500) Tags
Green Green List (high evidence)	TSEN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar Hypoplasia Pontocerebellar hypoplasia type 2B,612389 Pontocerebellar Hypoplasia type 2B Pontocerebellar hypoplasia 2B (612389) Tags
Green Green List (high evidence)	TSEN34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2C,612390 Pontocerebellar Hypoplasia type 2C Pontocerebellar hypoplasia 2C (612390) Pontocerebellar Hypoplasia Tags
Green Green List (high evidence)	TSEN54	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar Hypoplasia type 2A Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) Pontocerebellar hypoplasia type 2A, 277470 Pontocerebellar Hypoplasia type 4 Pontocerebellar hypoplasia type 4, 225753 Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia type 5 Tags
Green Green List (high evidence)	TTBK2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 11 Tags
Green Green List (high evidence)	TTC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TTPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Tags
Green Green List (high evidence)	TUBA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Lissencephaly 3 6,1603 Tags
Green Green List (high evidence)	TUBB2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes complex cortical dysplasia with other brain malformations-7 , 610031 Tags
Green Green List (high evidence)	TUBB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 1 614039 Tags
Green Green List (high evidence)	TUBB4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green Green List (high evidence)	TWNK	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar Ataxia, Recessive Ataxia Neuropathy Spectrum Disorders, Dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Tags
Green Green List (high evidence)	VLDLR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Cerebellar Hypoplasia Tags
Green Green List (high evidence)	VPS13D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green Green List (high evidence)	VRK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar Hypoplasia type 1A Pontocerebellar Hypoplasia with infantile SMA Pontocerebellar Hypoplasia with anterior horn cell disease Pontocerebellar Hypoplasia Pontocerebellar hypoplasia 1A (#607596) Pontocerebellar hypoplasia type 1A,607596 Tags
Green Green List (high evidence)	WDR73	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature Galloway-Mowat syndrome 1, 251300 Tags
Green Green List (high evidence)	WDR81	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Tags
Green Green List (high evidence)	WFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Wolfram syndrome 1, 222300 Tags
Green Green List (high evidence)	WWOX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Amber Amber List (moderate evidence)	ABCA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 Tags
Amber Amber List (moderate evidence)	ATN1_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Dentatorubro-pallidoluysian atrophy 125370 Tags for-review STR
Amber Amber List (moderate evidence)	ATP8A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 Tags
Amber Amber List (moderate evidence)	ATXN10_ATTCT STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 10 603516 Tags for-review STR
Amber Amber List (moderate evidence)	ATXN1_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 1 164400 Tags for-review STR
Amber Amber List (moderate evidence)	ATXN3_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Machado-Joseph disease 109150 Tags for-review STR
Amber Amber List (moderate evidence)	B4GAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 Tags
Amber Amber List (moderate evidence)	CACNA1A_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 6 183086 Tags for-review STR
Amber Amber List (moderate evidence)	COASY	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis Tags
Amber Amber List (moderate evidence)	COG5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIi Tags
Amber Amber List (moderate evidence)	DAG1	0 reviews	Unknown	Sources Expert Review Amber Phenotypes congenital muscular dystrophies Tags
Amber Amber List (moderate evidence)	DCC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542 Tags
Amber Amber List (moderate evidence)	DMXL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Sensorineural Hearing Loss ORPHA90636 OMIM:612186 Tags
Amber Amber List (moderate evidence)	EXOSC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Short stature Motor developmental delays Cerebellar hypoplasia Ataxia Tags
Amber Amber List (moderate evidence)	GLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733 Tags for-review STR
Amber Amber List (moderate evidence)	HARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multisystem ataxic syndrome Intellectual disability Tags new-gene-name
Amber Amber List (moderate evidence)	LARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 4, MIM# 615300 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy Tags for-review
Amber Amber List (moderate evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mevalonic aciduria 610377 Tags
Amber Amber List (moderate evidence)	NOP56_GGCCTG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 36 614153 Tags for-review STR
Amber Amber List (moderate evidence)	PHGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neu-Laxova syndrome 1, 256520 Tags
Amber Amber List (moderate evidence)	PPP2R2B_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 12 604326 Tags for-review STR
Amber Amber List (moderate evidence)	SMPD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes Tags
Amber Amber List (moderate evidence)	SVBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816 Tags
Amber Amber List (moderate evidence)	TBP_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia 17 607136 Tags for-review STR
Amber Amber List (moderate evidence)	TERT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes dyskeratosis congenita-2 Tags
Amber Amber List (moderate evidence)	TMEM106B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
Amber Amber List (moderate evidence)	TUBA8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 Tags
Amber Amber List (moderate evidence)	VAMP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags
Amber Amber List (moderate evidence)	VPS53	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia type 2E Pontocerebellar hypoplasia 2E (#615851) Tags
Red Red List (low evidence)	AARS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Red Red List (low evidence)	ALAS2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Tags
Red Red List (low evidence)	ATN1	0 reviews	Other - please specifiy in evaluation comments	Sources Expert Review Red Tags
Red Red List (low evidence)	ATP2B3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, X-linked 1 Tags
Red Red List (low evidence)	ATXN1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellarataxia1,164400 Tags
Red Red List (low evidence)	ATXN10	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellarataxia10,603516 Tags
Red Red List (low evidence)	ATXN2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 Tags
Red Red List (low evidence)	ATXN3	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ATXN7	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellarataxia7,164500 Tags
Red Red List (low evidence)	ATXN8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 8 Tags ensembl_ids_known_missing
Red Red List (low evidence)	BEAN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 31 117210 Tags
Red Red List (low evidence)	BRF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cerebellofaciodental syndrome 616202 Tags
Red Red List (low evidence)	CACNB4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Episodic ataxia, type 5 Episodic Ataxia Tags
Red Red List (low evidence)	CCDC88C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes autosomal dominant spinocerebellar ataxia Tags
Red Red List (low evidence)	CDK5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lissencephaly 7 with cerebellar hypoplasia 616342 Tags
Red Red List (low evidence)	CLP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar Hypoplasia Pontocerebellar hypoplasia 10 (#615803) Pontocerebellar Hypoplasia type 10 Tags
Red Red List (low evidence)	CSTB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 Tags
Red Red List (low evidence)	DAB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 37 Tags
Red Red List (low evidence)	DYNC1H1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Charcot Marie Tooth, SMA, Intellectual disability Tags
Red Red List (low evidence)	ELOVL5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 36 (#615957) Tags
Red Red List (low evidence)	EXOSC8	0 reviews	Unknown	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia,type 1C, 616081 Tags
Red Red List (low evidence)	FRMD4A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 Tags
Red Red List (low evidence)	GLS_GCA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733 Tags for-review NGS Not Validated STR
Red Red List (low evidence)	MTPAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ataxia, spastic, 4, Tags
Red Red List (low evidence)	NAGLU	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) Tags
Red Red List (low evidence)	NMNAT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes hydrops fetalis cystic hygroma bilateral hypoplastic lungs hydrocephalus hypoplastic cerebellum severely reduced skeletal muscle mass or absence flexion contractures of all extremities micrognathia cleft palate hydropic placenta Tags
Red Red List (low evidence)	NOP56	0 reviews	Other - please specifiy in evaluation comments	Sources Expert Review Red Phenotypes Spinocerebellarataxia36,614153 Tags
Red Red List (low evidence)	PAX2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Ataxia,spastic2,autosomalrecessive(2) Tags
Red Red List (low evidence)	PCLO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar Hypoplasia type 3 Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. Tags
Red Red List (low evidence)	PI4KA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531 Tags
Red Red List (low evidence)	PIK3R5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ataxia-oculomotor apraxia 3 Tags
Red Red List (low evidence)	POMK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 Tags
Red Red List (low evidence)	PPP2R2B	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellarataxia12,604326 Tags
Red Red List (low evidence)	PRICKLE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Progressive Myoclonus Epilepsy with Ataxia Tags
Red Red List (low evidence)	RUBCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	SCN8A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 Tags
Red Red List (low evidence)	SYT14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red Red List (low evidence)	TBP	0 reviews	Unknown	Sources Expert Review Red Phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 Tags
Red Red List (low evidence)	TDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive with axonal neuropathy Tags
Red Red List (low evidence)	TSEN15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia, type 2F 617026 Tags
Red Red List (low evidence)	TUBB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Cortical dysplasia, complex, with other brain malformations 6, 615771 Tags
Red Red List (low evidence)	UBR4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Episodic ataxia Tags
Red Red List (low evidence)	UCHL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Early onset ataxia and optic neuropathy Tags
Red Red List (low evidence)	XRCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia Tags
Red Red List (low evidence)	ZFYVE26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. Tags
Red Red List (low evidence)	ZNF592	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Tags
No list No list	ACO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Tags
No list No list	ADPRHL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 Tags
No list No list	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
No list No list	BBS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Bardet-Biedl syndrome 1, MIM#209900 Tags
No list No list	CAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Epileptic encephalopathy, early infantile, 50 OMIM # 616457 Tags
No list No list	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 Tags
No list No list	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Perrault syndrome 3, MIM# 614129 Tags
No list No list	COA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387 Tags
No list No list	DOCK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
No list No list	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Tags
No list No list	FA2H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Spastic paraplegia 35, autosomal recessive MIM#612319 Tags
No list No list	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Tags
No list No list	HTT_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Huntington disease 143100 Tags STR
No list No list	IRF2BPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Tags
No list No list	KCNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Early infantile encephalopathy 32, MIM#616366 Tags
No list No list	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Poretti Boltshauser syndrome MIM#615960 Tags
No list No list	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Pontocerebellar hypoplasia Tags
No list No list	MSTO1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Myopathy, mitochondrial, and ataxia, MIM# 617675 Tags
No list No list	MTCL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes slowly progressive cerebellar ataxia mild intellectual disability seizures episodic pain spinocerebellar ataxia Tags
No list No list	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Combined oxidative phosphorylation deficiency 15 MIM#614947 Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Tags
No list No list	NKX2-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Chorea, hereditary benign MIM#118700 Tags
No list No list	OPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Optic atrophy plus syndrome, MIM# 125250 Tags
No list No list	PITRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Ataxia Intellectual disability Tags
No list No list	PMPCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
No list No list	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Tags
No list No list	PTRH2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Tags
No list No list	RORA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Tags
No list No list	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Tags
No list No list	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Epileptic encephalopathy, early infantile, 11, MIM# 613721 Tags
No list No list	SCYL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 Tags
No list No list	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Sialic acid storage disorder, infantile, MIM# 269920 Tags
No list No list	SLC25A46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Tags
No list No list	SLC44A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
No list No list	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
No list No list	SLC9A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Lichtenstein-Knorr syndrome, MIM# 616291 Tags
No list No list	SNAP25	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Myasthenic syndrome, congenital, 18, 616330 cerebellar ataxia and seizures Tags
No list No list	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
No list No list	SQSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
No list No list	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Pontocerebellar hypoplasia, type 11, MIM# 617695 Tags
No list No list	TDP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 23, 616949 Tags
No list No list	THG1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cerebellar ataxia Tags
No list No list	UBTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Tags

Major version comments

2019-12-11 17:10 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.7) was signed off under NHS Genomic Medicine Service governance on (11/12/019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-09 17:56 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked against super panel made up of the panel constituents. Ready to promote to version 1.

Ataxia and cerebellar anomalies - narrow panel (Version 2.39)

7 reviewers

264 Entities

85 reviewed, 147 green

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