Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
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
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Anemia, sideroblastic, with ataxia
- Anemia, sideroblast with ataxia, 300135
- Sideroblastic Anemia and Ataxia
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Familial dyskinesia 606703
- Dyskinesia with facial myokymia
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Polymicrogyria, Frontoparietal, 606854
- Polymicrogyria, perisylvian type, 615752
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
- neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 28, 610246
- Ataxia, spastic, 5, autosomal recessive
- spastic ataxia 5, 614487
- Spinocerebellar ataxia 28
- Spinocerebellar Ataxia, Dominant
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hyoplasia 9, 615809
- Pontocerebellar hypoplasia 9 (#615809)
- Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia autosomal recessive type 10, 613728
- Spinocerebellar ataxia, autosomal recessive 10
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
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
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mental retardation, X-linked syndromic 5, 304340
- Pettigrew syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Ataxia with Oculomotor Apraxia
- Early onset ataxia with oculomotor apraxia and hypoalbuminemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Joubert syndrome 30, 617622
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Metachromatic leukodystrophy (#250100)
- Metachromatic Leukodystrophy, 250100
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia, cerebellar, Cayman type OMIM:601238
- Cayman type cerebellar ataxia MONDO:0011025
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia-telangiectasia, 607585
- Ataxia-Telangiectasia
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Dentatorubro-pallidoluysian atrophy 125370
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Alternating hemiplegia of childhood 1, 104290
- Familial hemiplegic migraine 2, 602481
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
- Alternating hemiplegia of childhood 2, 614820
- Dystonia-12, 128235
- Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
- ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
- CAPOS syndrome, 601338
- DYSTONIA 12, 128235
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Wilson disease 277900
- Wilson disease, 277900
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 10 603516
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 1 164400
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 2 183090
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Machado-Joseph disease 109150
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 7 164500
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Muscular dystrophy-dystroglycanopathy type A11, 615181
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Muscular dystrophy-dystroglycanopathy type A13, 615287
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebrofaciodental syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
- Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- SCA6, 183086
- familial hemiplegic migraine type 1, 141500
- Episodic ataxia, type 2
- Spinocerebellar ataxia 6
- Familial hemiplegic migraine 1, 141500
- Episodic ataxia type 2, 108500
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
- episodic ataxia type 2 (EA2),108500
Tags
- nucleotide-repeat-expansion
- treatable
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 6 183086
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 42, 616795
- early-onset SCA42 with neurodevelopmental deficits, 618087
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia with mental retardation, 614756
- Cerebellarataxia, nonprogressive, with mental retardation, 614756
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic paraplegia type 76, 616907
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
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
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- FG syndrome 4, 300422
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia, type 8 OMIM:614961
- pontocerebellar hypoplasia type 8 MONDO:0013990
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
- {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
- Leukoencephalopathy with ataxia, 615651
- {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ceroid neuronal lipofuscinosis kufs type, 204300
- Ceroid lipofuscinosis, neuronal, 6, 601780
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
- Ceroid neuronal lipofuscinosis 6, 601780
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 10 OMIM:615803
Tags
- founder-effect
- Q2_21_phenotype
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 12, 618266
- Neurodegeneration with brain iron accumulation 6, 615643
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Congenital disorder of glycosylation type 2i, 613612
- Congenital disorder of glycosylation, type Iii 613612
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar Ataxia Type
- Primary coenzyme Q10 deficiency 4, 612016
- Coenzyme Q10 deficiency, primary 4, 612016
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mitochondrial complex IV deficiency, 220110
- Mitochondrial complex IV deficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Hemosiderosis, systemic, due to aceruloplasminemia, 604290
- Cerebellar ataxia, 604290
- Aceruloplasminemia, 604290
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Progressive myoclonic epilepsy 1A, 254800
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
NHS GMS
Phenotypes
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 17, 616127
- Autosomal recessive spinocerebellar ataxia type 17, 616127
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebrotendinous xanthomatosis, 213700
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic paraplegia type 56, 615030
- Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic paraplegia 54
- 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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- 3-methylglutaconic aciduria, type V 610198
- dilated cardiomyopathy with ataxia (DCMA) syndrome
- 3-methylglutaconic aciduria type V, 610198
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ceroid neuronal lipofuscinosis 4, Parry type, 162350
- Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
- Cerebellar ataxia, deafness and narcolepsy, 604121
- Hereditary sensory neuropathy type IE, 614116
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Hypotonia, ataxia, and delayed development syndrome OMIM:617330
- hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukoencephalopathy with vanishing white matter, 603896
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukoencephalopathy with vanishing white matter, 603896
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukoencephalopathy with vanishing white matter, 603896
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukoencephalopathy with vanishing white matter, 603896
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukoencephalopathy with vanishing white matter, 603896
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 34, 133190
- Spinocerebellar ataxia 34 133190
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Progressive myoclonic epilepsy 2A, Lafora, 254780
- Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 1B, 614678
- Pontocerebellar hypoplasia, type 1B, 614678
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 1C
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 1D, 618065
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 27
- Spinocerebellar ataxia type 27, 609307
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Posterior Column Ataxia with Retinitis Pigmentosa
- Posterior column ataxia with retinitis pigmentosa, 609033
- Ataxia, posterior column, with retinitis pigmentosa,
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert list
-
Expert Review Green
Phenotypes
- Fragile X syndrome, 300624
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Neurodegeneration due to cerebral folate transport deficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Friedreichataxia, 229300
- Friedreich ataxia, 229300
- Friedreich ataxia with retained reflexes,229300
Tags
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic paraplegia 46, 614409
- Spastic paraplegia 46, autosomal recessive, 614409
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal Dominant Ataxia
- Alexander disease
- Alexander disease, 203450
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukodystrophy, hypomyelinating, 2
- Spastic paraplegia 44, 613206
- Hypomyelinating leukodystrophy 2, 608804
- Autosomal Recessive Ataxia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Hyperekplexia 1, 149400
- Hyperekplexia, hereditary 1, 149400
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Epilepsy, progressive myoclonic 6, 614018
- Progressive myoclonic epilepsy 6, 614018
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 13
- Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Tay-Sachs disease, 272800
- GM2-gangliosidosis, several forms, 272800
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Sandhoff disease, infantile, juvenile, and adult forms, 268800
- Sandhoff disease, 268800
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Tags
|
Green
Green List (high evidence)
|
ISCA-37404-Loss
Region
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- 105831
- Angelman syndrome
- Developmental delay, muscle weakness
- Mental retardation
- 176270
- microcephaly
- Prader-Willi syndrome
Tags
|
Green
Green List (high evidence)
|
ISCA-37478-Gain
Region
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
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)
|
ISCA-37478-Loss
Region
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- microcephaly
- 176270
- Mental retardation
- Angelman syndrome
- Prader-Willi syndrome
- Developmental delay, muscle weakness
- 105830
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 15, 606658
- Gillespie syndrome, 206700
- Spinocerebellar ataxia 15
- Spinocerebellar ataxia 29
- Spinocerebellar ataxia 29, 117360
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- myokymia with periodic ataxia
- Episodic ataxia/myokymia syndrome
- EPISODIC ATAXIA, TYPE 1
- Episodic ataxia/myokymia syndrome, 160120
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Early infantile encephalopathy 32, 616366
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 13, 605259
- Spinocerebellar ataxia 13
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 19, 607346
- Spinocerebellarataxia19, 607346
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- SESAME syndrome, 612780
- Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Early infantile encephalopathy 7, 613720
- Myokymia, 121200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic ataxia 2,autosomal recessive
- Autosomal recessive spastic ataxia 2, 611302
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Intellectual Disability with variable brain anomalies
- Neurodevelopmental disorder with or without variable brain abnormalities, 618443
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic ataxia 3, autosomal recessive
- Autosomal recessive spastic ataxia 3, 611390
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Dominant optic atrophy plus
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria cblC type, 277400
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia-telangiectasia-like disorder 1, 604391
- Ataxia-Telangiectasia-Like Disorder
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Myopathy, mitochondrial, and ataxia OMIM:617675
- mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MITOCHONDRIAL
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500
- Neuropathy, Ataxia, and Retinitis Pigmentosa
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Abetalipoproteinemia, 200100
- Abetalipoproteinemia
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Progressive myoclonic epilepsy 2B, Lafora, 254780
- Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
- Chorea, hereditary benign 118700
- Hereditary bening chorea, 118700
- Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 36 614153
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Niemann-Pick disease type C1, 257220
- Niemann-Pick disease types C1 and D (#257220)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Niemann-Pick disease type C2 (#607625)
- Niemann-Pick disease type C2, 607625
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Optic atrophy 1, 165500
- Behr syndrome, 210000
- Optic atrophy plus syndrome, 125250
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Optic atrophy 3 with cataract, 165300
- 3-methylglutaconic aciduria, type III, 258501
- 3-methylglutaconic aciduria type III, 258501
- Costeff syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
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
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
- X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Early infantile epileptic encephalopathy 66, 618067
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Zellweger syndrome (614876)
- Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
- Peroxisome biogenesis disorder 8B, 614877
- Peroxisome biogenesis disorder 8A, 614876
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Peroxisome biogenesis disorder 4A, 614862
- Peroxisome biogenesis disorder 4B, 614863
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Parkinson disease 14 (#612953)
- Autosomal recessive Parkinson disease 14, 612953
- Infantile neuroaxonal dystrophy 1 (#256600)
- Neurodegeneration with brain iron accumulation 2B, 610217
- Neurodegeneration with brain iron accumulation 2B (#610217)
- Infantile neuroaxonal dystrophy 1, 256600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia 2, 213200
- Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Multiple mitochondrial dysfunctions syndrome 6, 617954
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Paroxysmal nonkinesigenic dyskinesia 1, 118800
- PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Microcephaly, seizures and developmental delay, 613402
- Ataxia-oculomotor apraxia 4, 616267
- Ataxia with oculomotor apraxia 4 (#616267)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Sapstic paraplegia 39, 612020
- Oliver-McFarlane syndrome, 275400
- Boucher-Neuhauser syndrome, 215470
- Oliver-McFarlane syndrome (#603197)
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- Mitochondrial recessive ataxia syndrome, 607459
- autosomal recessive progressive external opthalmoplegia, 258450
- autosomal dominant progressive external ophthalmoplegia, 157640
- Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
- Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
- Autosomal Recessive Ataxia
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 12 604326
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Progressive myoclonic epilepsy 1B, 612437
- Progressive Myoclonus Epilepsy with Ataxia
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 14
- Spincocerebellar ataxia 14, 605361
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal Dominant Ataxia
- Multiple allelic disorders reported
- Huntington disease-like 1
- Gerstmann-Straussler disease
- Creutzfeldt-Jakob disease
- Insomnia, fatal familial
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
- SEIZURES, BENIGN FAMILIAL INFANTILE, 2
- EPISODIC KINESIGENIC DYSKINESIA 1
- Familial infantile convulsions with paroxysmal dyskinesia 1, 602066
- dystonia and occasionally hemiplegic migraine and epilepsy
- episodic kinesigenic dyskinesia
- episodic kinesigenic dyskinesia, 128200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 47, 617931
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- epilepsy
- Pontocerebellar hypoplasia
- Pontocerebellar hypoplasia 6, 611523
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal dominant sensory ataxia 1, 608984
- Ataxia, sensory, 1, autosomal dominant
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
- Cerebellar ataxia and hypogonadotrophic hypogonadism
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Familial horizontal gaze palsy with progressive scoliosis, 607313
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Charlevoix-Saguenay spastic ataxia, 270550
- Spastic ataxia, Charlevoix-Saguenay type
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia-pancytopenia syndrome, 159550
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- familial hemiplegic migraine 3
- Familial febrile seziures 3A, 604403
- Dravet syndrome
- several epilepsy, convulsion and migraine disorders.
- Generalised epilepsy with febrile seizures type 2, 604403
- Familial hemiplegic migraine 3, 609634
- Epileptic encephalopathy 6, 607208
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- epilepsy
- paroxysmal kinesigenic dyskinesias
- Epileptic encephalopathy 13, 614558
- Benign familial infantile seizures 5, 617080
- Cognitive impairment with or without cerebellar ataxia, 614306
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 21, 616719
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 2D, 613811
- Pontocerebellar hypoplasia type 2D (613811)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
- Autosomal recessive spinocerebellar ataxia type 1, 606002
- Ataxia-ocular apraxia-2
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Marinesco-Sjogren syndrome, 248800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Episodic ataxia, type 6
- Episodic ataxia type 6, 612656
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Hereditary motor and sensory neuropathy type VIB, 616505
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- GLUT1 DEFICIENCY SYNDROME 1
- dystonia 9
- GLUT1 deficiency syndrome 2, 612126
- GLUT1 deficiency syndrome 1, 606777
- Dystonia 9, 601042
- EPILEPSY, IDIOPATHIC GENERALIZED
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Congenital disorder of glycosylation type IIN, 616721
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Bwon-Vialetto-Van Laere syndrome 2, 614707
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Lichtenstein-Knorr Syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Hereditary ataxia v1.148
Phenotypes
- Mental retardation, X-linked syndromic, Christianson type, 300243
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia (#616354)
- Autosomal recessive spinocerebellar ataxia 20, 616354
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
- Autosomal recessive spastic paraplegia 7, 607259
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
- Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar Ataxia, Dominant
- Autosomal recessive spinocerebellar ataxia 14, 615386
- Spinocerebellar ataxia, autosomal recessive 14
- Spinocerebellar ataxia 5
- Spinocerebellar ataxia 5, 600224
- SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
- SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Congenital disorder of glycosylation type Iq, 612379
- Congenital disorder of glycosylation, type Iq, 612379
- Kahrizi syndrome, 612713
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia type 16, 615768
- Spinocerebellar ataxia, autosomal recessive 16
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
- Autosomal recessive ataxia, Beauce type, MONDO:0012549
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal dominant mental retardation 5, 612621
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia type 11, 617695
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 17 607136
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Dyskeratosis congenita, 613989
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Leukodystrophy, hypomyelinating, 16, OMIM:617964
- Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 21, 607454
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 7, 614969
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia 7, 609270
- Ceroid lipofuscinosis, neuronal, 2, 204500
- Spinocerebellar ataxia, autosomal recessive 7, 609270
- Neuronal ceroid lipofuscinosis, 204500
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 2F, 617026
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 2B, 612389
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 5, 610204
- Pontocerebellar hypoplasia 4, 225753
- Pontocerebellar hypoplasia 2A, 277470
- Pontocerebellar hypoplasia type 4, 225753
- Pontocerebellar hypoplasia type 2A, 277470
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 11, 604432
- Spinocerebellar ataxia 11
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia with isolated vitamin E deficiency
- Ataxia with Vitamin E Deficiency
- Ataxia with isolated vitamin E deficiency, 277460
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Complex cortical dysplasia with other brain abnormalities 7, 610031
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Complex cortical dysplasia with other brain abnormalities 1, 614039
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Dystonia 4, torsion, autosomal dominant, 128101
- Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438
- Leukodystrophy, hypomyelinating, 6, 612438
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mitochondrial DNA depletion syndrome 7, 271245
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
- Ataxia Neuropathy Spectrum Disorders, Dominant
- Spinocerebellar Ataxia, Recessive
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286
- Perrault syndrome 5, 616138
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Early infantile epileptic encephalopathy 44, 617132
- Autosomal recessive spinocerebellar ataxia 24, 617133
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Early onset ataxia and optic neuropathy
- Autosomal recessive spastic paraplegia 79, 615491
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
- Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia 4, 608877
- Spinocerebellar ataxia, autosomal recessive 4, 607317
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 2E, 615851
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Galloway-Mowat Syndrome 1, 251300
- Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
- Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
- Congenital hydrocephalus 3 with brain anomalies, 617967
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Wolfram syndrome 1, 222300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia 12, 6143232
- Autosomal recessive spinocerebellar ataxia 12, 614322
- Early infantile epileptic encephalopathy 28, 616211
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spastic paraplegia 15, 270700
- Autosomal recessive spastic paraplegia 15, 270700
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
Unknown
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, X-linked 1
- X-linked spinocerebellar ataxia, 302500
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal dominant MR 13, 614563
- Charcot Marie Tooth, SMA, Intellectual disability
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 38, 615957
- Spinocerebellar ataxia 36 615957
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Amber
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Seizures, benign neonatal, type 2, 121201
- Benign neonatal seizures 2, 121201
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Axonal type CMT disease type 2Z, 616688
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia, spastic, 4,
- Autosomal recessive spastic ataxia 4, 613672
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Amber
Phenotypes
- Peroxisome biogenesis disorder 5B, 614867
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Chylomicron retention disease, 246700
- Chylomicron retention disease 246700
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal dominant spastic ataxia 1, 108600
- Spastic ataxia 1, autosomal dominant, 108600
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 1A, 607596
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
- Autosomal recessive spinocerebellar ataxia 26, 617633
Tags
|
Red
Red List (low evidence)
|
|
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
-
Hereditary ataxia v1.148
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Dentato-pallidoluysian atrophy
- Dentatorubro-pallidoluysian atrophy 125370
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 1, 164400
- Spinocerebellarataxia1,164400
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 10, 603516
- Spinocerebellarataxia10, 603516
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellarataxia2, 183090
- Spinocerebellar ataxia 2, 183090
- {Amyotrophiclateralsclerosis,susceptibilityto,13},183090
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Machado-Joseph disease, 109150
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellarataxia 7,164500
- Spinocerebellar ataxia 7, 164500
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
Phenotypes
- Spinocerebellar ataxia 8 608768
Tags
- currently-ngs-unreportable
- ensembl_ids_known_missing
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 31, 117210
- Spinocerebellar ataxia 31 117210
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
- structural-variant
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Episodic ataxia type 5, 613855
- Episodic ataxia, type 5
- EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
- Episodic Ataxia
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 40, 616053
- autosomal dominant spinocerebellar ataxia
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
Not set
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Lissencephaly 7 with cerebellar hypoplasia, 616342
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 37, 615945
- Spinocerebellar ataxia 37 615945
Tags
- currently-ngs-unreportable
- founder-effect
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mirror movements 1 and/or agenesis of the corpus callosum
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Sensorineural Hearing Loss
- OMIM:612186
- Polyendocrine-polyneuropathy syndrome, 616113
- ORPHA90636
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
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
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- FragileXtremor/ataxiasyndrome,300623
- Fragile X tremor/ataxia syndrome
- 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
Tags
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Agenesis of corpus callosum with facial anomalies and cerebellar ataxia
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Greig syndrome, 175700
- Pallister-Hall syndrome, 146510
- Polydactyly type IV, 174700
- Polydactyly types A1/B, 174200
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Huntington disease 143100
- Lopes-Maciel-Rodan syndrome, 617432
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
ISCA-37468-Loss
Region
|
1 review
1 red
|
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
-
NHS GMS
Phenotypes
- hypotonia
- episodes of sudden loss of muscle tone
- short stature
- severe intellectual disability
- autistic features
- eleveated serotonin levels
- exiting behavior
- lip-smacking
- stereotypical hand movements
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Susceptibility to migraine with/without arua 13, 613656
- MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia type 43, 617018
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
Phenotypes
- Mevalonic aciduria 610377
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- CMT axon type 2V, 616491
- Sanfilippo syndrome B (AR) (OMIM #252920)
- Sensory neuropathy turning into a mild sensory ataxia (AD)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Other - please specifiy in evaluation comments
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
Phenotypes
- Spinocerebellarataxia36,614153
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia,spastic2,autosomal recessive
- Papillorenal syndrome, AR
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Aniridia, 106210
- Aniridia, Cerebellar Ataxia, And Mental Retardation
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
- Pontocerebellar hypoplasia type 3, 608027
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 23
- Spinocerebellar ataxia 23, 610245
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Ataxia-oculomotor apraxia 3, 615217
- Ataxia-oculomotor apraxia 3
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
Phenotypes
- Spinocerebellarataxia12,604326
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
- watchlist
|
Red
Red List (low evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia 15, 615705
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Red
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Paroxysmal extreme pain disorder, 167400
- Congenital Indifference to Pain
- Paroxysmal Extreme Pain Disorder
- Hereditary Sensory Neuropathy
- Febrile seizures, familial, 3B, 613863
- Dysosteosclerosis
- Epilepsy, generalized, with febrile seizures plus, type 7, 613863
- Insensitivity to pain, channelopathy-associated, 243000
- Erythermalgia, primary, 133020
- Erythermalgia, Primary
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Riboflavin-responsive exericise intolerance, 616839
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Brain channelopathy v1.46
-
Expert Review Red
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
Not set
|
Sources
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellarataxia,autosomalrecessive11,614229
- Autosomal recessive spinocerebellar ataxia 11, 614229
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
Phenotypes
- Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250
- Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia 35, 613908
- Spinocerebellar ataxia 35
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia with developmental delay
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Autosomal dominant dyskeratosis congenita 3, 613990
- Revesz syndrome, 268130
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Pontocerebellar hypoplasia 2C, 612390
- Pontocerebellar hypoplasia 2C (612390)
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Mitochondrial complex III deficiency nuclear type II, 615157
- Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Complex cortical dysplasia with other brain malformations 8, 613180
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Complex cortical dysplasia with other brain malformations 6, 615771
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
- Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Episodic ataxia
- Episodic ataxia type 8, 616055
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Hereditary ataxia v1.148
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Galloway-Mowat Syndrome 1, 251300
- Spinocerebellar ataxia, autosomal recessive 5
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Cerebellar ataxia
- Xeroderma pigmentosum, group F, MIM# 278760
Tags
|
No list
No list
|
STR
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Removed
-
London North GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Huntington disease 143100
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Tags
|