Description
This panel is used for clinical indication 'R57 Childhood onset dystonia, chorea or related movement disorder' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R56 Adult onset dystonia, chorea or related movement disorder'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/847/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (12/12/2019).

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.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Emily Jones (North Bristol NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

941 Entities

941 reviewed, 154 green

List Entity Reviews Mode of inheritance Details
941 Entitiess
Green Green List (high evidence)
ABAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • GABA-transaminase deficiency 613163
Tags
Green Green List (high evidence)
ACOX1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, 264470
Tags
Green Green List (high evidence)
ACTB
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • ?Dystonia, juvenile-onset
  • Baraitser-Winter syndrome 1, 243310
Tags
Green Green List (high evidence)
ADAR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010
  • dystonia
Tags
Green Green List (high evidence)
ADCY5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
  • dystonia
  • Familial dyskinesia, 606703
Tags
Green Green List (high evidence)
AFG3L2
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Spastic ataxia 5, autosomal recessive 614487
  • Spinocerebellar ataxia 28 610246
Tags
Green Green List (high evidence)
ALDH18A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Cutis laxa, autosomal dominant 3 616603
  • Cutis laxa, autosomal recessive, type IIIA 219150
  • Spastic paraplegia 9A, autosomal dominant 601162
  • Spastic paraplegia 9B, autosomal recessive 616586
Tags
Green Green List (high evidence)
ANO3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Tags
Green Green List (high evidence)
AP1S2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Mental retardation, X-linked syndromic 5, 304340
Tags
Green Green List (high evidence)
APTX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Tags
Green Green List (high evidence)
ARSA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Metachromatic leukodystrophy, 250100
Tags
Green Green List (high evidence)
ATM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Ataxia telangiectasia, 208900
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Kufor-Rakeb syndrome 606693
  • Parkinson disease
  • Dystonia
Tags
Green Green List (high evidence)
ATP1A2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • familial basilar migraine 602481
  • familial hemiplegic migraine type 2, 602481
  • alternating hemiplegia of childhood 104290
  • Dystonia
  • migraine
Tags
Green Green List (high evidence)
ATP1A3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • DYSTONIA 12, 128235
  • Rapid-Onset Dystonia-Parkinsonism
  • Dystonia-12, 128235
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Tags
Green Green List (high evidence)
ATP7B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Wilson disease 277900
  • Dystonia
Tags
Green Green List (high evidence)
BCAP31
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Tags
Green Green List (high evidence)
BCS1L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
Tags
Green Green List (high evidence)
C19orf12
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • neurodegeneration with brain iron accumulation-4, 614298
  • mitochondrial membrane protein-associated neurodegeneration
  • Dystonia
Tags
Green Green List (high evidence)
C9orf72
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Tags
Green Green List (high evidence)
CACNA1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • familial hemiplegic migraine type 1, 141500
  • Dystonia
  • episodic ataxia type 2 (EA2), 108500
Tags
Green Green List (high evidence)
CACNA1G
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
  • Spinocerebellar ataxia 42 616795
Tags
Green Green List (high evidence)
CACNB4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
  • EPISODIC ATAXIA, TYPE 5
Tags
Green Green List (high evidence)
CLN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
Tags
Green Green List (high evidence)
CLN5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, 256731
Tags
Green Green List (high evidence)
CLPB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Tags
Green Green List (high evidence)
COASY
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodegeneration with brain iron accumulation 6 615643
  • COASY protein-associated neurodegeneration
Tags
Green Green List (high evidence)
COL6A3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dystonia 27, 616411
Tags
Green Green List (high evidence)
COX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Leigh syndrome due to mitochondrial COX4 deficiency, 256000
Tags
Green Green List (high evidence)
COX15
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
Green Green List (high evidence)
CSTB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • microcephaly and severe dyskinesia
  • Epilepsy, progressive myoclonic 1A, 254800
Tags
Green Green List (high evidence)
DCAF17
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Woodhouse-Sakati syndrome, 241080
Tags
Green Green List (high evidence)
DDC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, 608643
  • Dystonia
Tags
Green Green List (high evidence)
DLAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency 245348
  • Dystonia
Tags
Green Green List (high evidence)
DLD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
Tags
Green Green List (high evidence)
DNAJC12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
Green Green List (high evidence)
ECHS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277
Tags
Green Green List (high evidence)
FA2H
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • fatty acid hydroxylase-associated neurodegeneration
  • Dystonia
  • Spastic paraplegia 35, autosomal recessive 612319
Tags
Green Green List (high evidence)
FBXO7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
  • juvenile parkinsonism
  • Dystonia
Tags
Green Green List (high evidence)
FOLR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • Folate receptor alpha deficiency
Tags
Green Green List (high evidence)
FOXRED1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, 618241
Tags
Green Green List (high evidence)
FTL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodegeneration with brain iron accumulation 3 606159
Tags
Green Green List (high evidence)
FXN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Friedreich ataxia
  • Friedreich ataxia with retained reflexes, 229300
Tags
Green Green List (high evidence)
GBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type I, 230800
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III 231000
  • Gaucher disease, type IIIC, 231005
Tags
Green Green List (high evidence)
GCDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Glutaricaciduria, type I, 231670
Tags
Green Green List (high evidence)
GCH1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dopa-Responsive Dystonia (DRD)
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • GTP-cyclohydrolase deficiency
Tags
Green Green List (high evidence)
GJC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Leukodystrophy, hypomyelinating, 2, 608804
Tags
Green Green List (high evidence)
GLB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • GM1-gangliosidosis, type III, 230650
Tags
Green Green List (high evidence)
GLRA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Green Green List (high evidence)
GM2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
Tags
Green Green List (high evidence)
GNAL
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
  • South West GLH
Phenotypes
  • Dystonia 25, 615073
Tags
Green Green List (high evidence)
GNAO1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
Green Green List (high evidence)
GTPBP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Jaberi-Elahi syndrome, 617988
Tags
Green Green List (high evidence)
HCFC1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Tags
Green Green List (high evidence)
HEXA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Hex A pseudodeficiency, 272800 AR
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HIBCH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Tags
Green Green List (high evidence)
HPCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • adolescence-onset segmental dystonia
  • generalized dystonia with additional neurological features
  • Dystonia 2, torsion, autosomal recessive, 224500
  • childhood-onset generalized dystonia
Tags
Green Green List (high evidence)
HSPD1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
IFIH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Aicardi-Goutieres syndrome 7 615846
Tags
Green Green List (high evidence)
KCNA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
Tags
Green Green List (high evidence)
KCNMA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Cerebellar atrophy, developmental delay, and seizures, 617643
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Tags
Green Green List (high evidence)
KCNQ2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Myokymia, 121200
  • Dystonia
Tags
Green Green List (high evidence)
KCTD17
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dystonia 26, myoclonic
Tags
Green Green List (high evidence)
KIF1C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spastic ataxia 2, autosomal recessive, 611302
Tags
Green Green List (high evidence)
KMT2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia 28, childhood-onset 617284
  • early-onset dystonia
Tags
Green Green List (high evidence)
LRPPRC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111
Tags
Green Green List (high evidence)
MARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spastic ataxia 3, autosomal recessive, 611390
Tags
Green Green List (high evidence)
MECR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Tags
Green Green List (high evidence)
MRE11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Ataxia-telangiectasia-like disorder 1, 604391
Tags
Green Green List (high evidence)
MT-ATP6
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
Tags
Green Green List (high evidence)
MT-CO3
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY
Tags
Green Green List (high evidence)
MT-ND1
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Tags
Green Green List (high evidence)
MT-ND3
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
Tags
Green Green List (high evidence)
MT-ND4
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Green Green List (high evidence)
MT-ND5
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Green Green List (high evidence)
MT-ND6
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Green Green List (high evidence)
MT-TC
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • DYSTONIA, MITOCHONDRIAL
Tags
Green Green List (high evidence)
MT-TK
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • MERRF SYNDROME
Tags
Green Green List (high evidence)
MTFMT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, 614947
  • Mitochondrial complex I deficiency, nuclear type 27, 618248
Tags
Green Green List (high evidence)
NDUFA1
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 Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Green Green List (high evidence)
NDUFA10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Leigh syndrome 256000
Tags
Green Green List (high evidence)
NDUFAF5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 16, 618238
Tags
Green Green List (high evidence)
NDUFAF6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Green Green List (high evidence)
NDUFS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, 618226
Tags
Green Green List (high evidence)
NDUFS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex I deficiency 252010
  • Leigh syndrome 256000
Tags
Green Green List (high evidence)
NDUFS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3, 618224
Tags
Green Green List (high evidence)
NDUFS8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2, 618222
Tags
Green Green List (high evidence)
NDUFV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Green Green List (high evidence)
NGLY1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Congenital disorder of deglycosylation, 615273
Tags
Green Green List (high evidence)
NKX2-1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • PanelApp
  • South West GLH
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
  • Chorea, hereditary benign 118700
Tags
Green Green List (high evidence)
NKX6-2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
NPC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Niemann-Pick disease, type C1, 257220
  • Niemann-Pick disease, type D, 257220
Tags
Green Green List (high evidence)
NPC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Niemann-pick disease, type C2, 607625
Tags
Green Green List (high evidence)
OCLN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria, 251290
Tags
Green Green List (high evidence)
OPA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
Tags
Green Green List (high evidence)
PANK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • pantothenate kinase-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 1, 234200
Tags
Green Green List (high evidence)
PCCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PCCB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PDE10A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Striatal degeneration, autosomal dominant 616922
  • Dyskinesia, limb and orofacial, infantile-onset 616921
Tags
Green Green List (high evidence)
PDE2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • infantile‐onset chorea‐predominant movement disorder
Tags
Green Green List (high evidence)
PDGFB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Basal ganglia calcification, idiopathic, 5, 615483
Tags
Green Green List (high evidence)
PDHA1
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 Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency 312170
Tags
Green Green List (high evidence)
PDHX
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Lacticacidemia due to PDX1 deficiency, 245349
Tags
Green Green List (high evidence)
PET100
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
PINK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Parkinson disease 6, early onset, 605909
  • Dystonia
Tags
Green Green List (high evidence)
PLA2G6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodegeneration with brain iron accumulation 2B 610217
  • Parkinson disease 14, autosomal recessive 612953
  • Infantile neuroaxonal dystrophy 1 256600
  • PLA2G6-associated neurodegeneration
Tags
Green Green List (high evidence)
PNKD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Familial Paroxysmal Nonkinesigenic Dyskinesia
  • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
  • Paroxysmal nonkinesigenic dyskinesia, 118800
Tags
Green Green List (high evidence)
PNKP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Ataxia-oculomotor apraxia 4, 616267
  • Microcephaly, seizures, and developmental delay, 613402
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
  • Wiedemann-Rautenstrauch syndrome, 264090
Tags
Green Green List (high evidence)
PRKN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Parkinson disease, juvenile, type 2, 600116
  • juvenile parkinsonism/dystonia
Tags
Green Green List (high evidence)
PRKRA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia 16, 612067
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
  • Dystonia
Tags
Green Green List (high evidence)
PRNP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Creutzfeldt-Jakob disease 123400
  • Huntington disease-like 1 603218
  • Cerebral amyloid angiopathy, PRNP-related 137440
  • Gerstmann-Straussler disease 137440
Tags
Green Green List (high evidence)
PRRT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
  • Episodic kinesigenic dyskinesia 1, 128200
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
  • episodic kinesigenic dyskinesia
Tags
Green Green List (high evidence)
PTS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • 6-Pyruvoyltetrahydropterin Synthase Deficiency
  • Dystonia
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
Tags
Green Green List (high evidence)
QDPR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dihydropteridine reductase deficiency
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
  • Dystonia
Tags
Green Green List (high evidence)
RAB39B
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Waisman syndrome 311510
Tags
Green Green List (high evidence)
RNASEH2B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 2, 610181
Tags
Green Green List (high evidence)
RNASEH2C
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329
Tags
  • founder-effect
Green Green List (high evidence)
RNASET2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly, 612951
Tags
Green Green List (high evidence)
SAMHD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
Tags
Green Green List (high evidence)
SCN8A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • paroxysmal kinesigenic dyskinesias
  • epilepsy, Seizures, benign familial infantile, 5, 617080
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Lesions in the basal ganglia
  • MEGDEL syndrome
  • MEGDHEL syndrome
  • Dystonia
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
Tags
Green Green List (high evidence)
SETX
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Tags
Green Green List (high evidence)
SGCE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
  • Myoclonus dystonia syndrome
Tags
Green Green List (high evidence)
SLC19A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
Tags
Green Green List (high evidence)
SLC20A2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Basal ganglia calcification, idiopathic, 1 213600
  • Dystonia
Tags
Green Green List (high evidence)
SLC2A1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • GLUT1 deficiency syndrome 1, 606777
  • GLUT1 deficiency syndrome 2, childhood onset
  • dystonia 9
  • EPILEPSY, IDIOPATHIC GENERALIZED
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • Dystonia
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
  • GLUT1 deficiency syndrome 2
Tags
Green Green List (high evidence)
SLC30A10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Tags
Green Green List (high evidence)
SLC39A14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Tags
Green Green List (high evidence)
SLC6A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dopamine transporter deficiency
  • Parkinsonism-dystonia, infantile, 613135
Tags
Green Green List (high evidence)
SLC6A8
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Cerebral creatine deficiency syndrome 1, 300352
Tags
Green Green List (high evidence)
SPR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dopa-Responsive Dystonia
  • Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
  • Sepiapterin reductase deficiency
  • paediatric form of dopa responsive dystonia
Tags
Green Green List (high evidence)
SUCLA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Tags
Green Green List (high evidence)
SUOX
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Sulfite oxidase deficiency, 272300
Tags
Green Green List (high evidence)
SURF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K, 616684
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green Green List (high evidence)
SYNJ1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Parkinson disease 20, early-onset, 615530
  • juvenile Parkinsonism
Tags
Green Green List (high evidence)
TAF1
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 Green
  • London North GLH
  • South West GLH
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
Tags
Green Green List (high evidence)
TH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • DOPA-responsive dystonia
  • Segawa syndrome, recessive, 605407
  • Tyrosine Hydroxylase Deficiency
  • Segawa syndrome
  • paediatric form of dopa responsive dystonia
Tags
Green Green List (high evidence)
THAP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia 6, torsion, 602629
  • Dystonia
Tags
Green Green List (high evidence)
TIMM8A
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Mohr-Tranebjaerg syndrome, 304700
Tags
Green Green List (high evidence)
TOR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Autosomal dominant or sporadic dystonia (DYT1)
  • Early-Onset Primary Dystonia
  • Dystonia-1, torsion, 128100
Tags
Green Green List (high evidence)
TPK1
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Tags
Green Green List (high evidence)
TREX1
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • South West GLH
Phenotypes
  • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
  • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • hereditary whispering dysphonia
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • Dystonia
  • Leukodystrophy, hypomyelinating, 6 612438
Tags
Green Green List (high evidence)
VAC14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054
Tags
Green Green List (high evidence)
VAMP1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
Green Green List (high evidence)
VAMP2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities
Tags
Green Green List (high evidence)
VPS13A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Choreoacanthocytosis 200150
  • complex parkinsonism
Tags
Green Green List (high evidence)
VPS13D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317
Tags
Green Green List (high evidence)
WDR45
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 Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodegeneration with brain iron accumulation 5 300894
  • beta-propeller protein-associated neurodegeneration
  • Dystonia
Tags
Green Green List (high evidence)
WDR73
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
YY1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Gabriele-de Vries syndrome 617557
Tags
Green Green List (high evidence)
ZSWIM6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • PanelApp
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865
Tags
Amber Amber List (moderate evidence)
AAAS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, 231550
Tags
Amber Amber List (moderate evidence)
AASS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Hyperlysinemia
  • Saccharopinuria, 268700
Tags
Amber Amber List (moderate evidence)
ABCB7
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Anemia, sideroblastic, with ataxia, 301310
Tags
Amber Amber List (moderate evidence)
ACSF3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Combined malonic and methylmalonic aciduria, 614265
Tags
Amber Amber List (moderate evidence)
ANO10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Amber Amber List (moderate evidence)
ARX
2 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 Amber
  • South West GLH
Phenotypes
  • Partington Syndrome, 300382
Tags
Amber Amber List (moderate evidence)
ATCAY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Ataxia, cerebellar, Cayman type, 601238
Tags
Amber Amber List (moderate evidence)
ATXN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 1, 164400
Tags
Amber Amber List (moderate evidence)
ATXN10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 10, 603516
Tags
Amber Amber List (moderate evidence)
ATXN7
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 7, 164500
Tags
Amber Amber List (moderate evidence)
AUH
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • South West GLH
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950
Tags
Amber Amber List (moderate evidence)
CA8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Tags
Amber Amber List (moderate evidence)
CIZ1
3 reviews
1 red
Unknown
Sources
  • Expert Review Amber
  • London North GLH
  • South West GLH
Phenotypes
  • Dystonia 23, 614860
Tags
Amber Amber List (moderate evidence)
CLN8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, 600143
Tags
Amber Amber List (moderate evidence)
CTSD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Amber Amber List (moderate evidence)
CWF19L1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
Tags
Amber Amber List (moderate evidence)
CYP27A1
2 reviews
Unknown
Sources
  • Expert Review Amber
  • London North GLH
  • South West GLH
Phenotypes
  • Cerebrotendinous xanthomatosis, CTX, 213700
Tags
Amber Amber List (moderate evidence)
DMPK
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Myotonic dystrophy 1, 16090
Tags
Amber Amber List (moderate evidence)
DNAJC5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Tags
Amber Amber List (moderate evidence)
ELOVL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Tags
Amber Amber List (moderate evidence)
FGF14
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 27, 609307
Tags
Amber Amber List (moderate evidence)
FOXG1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Rett Syndrome, congenital variant, 613454
Tags
Amber Amber List (moderate evidence)
GRID2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
Amber Amber List (moderate evidence)
GRM1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 44, 617691
  • Spinocerebellar ataxia, autosomal recessive 13, 614831
Tags
Amber Amber List (moderate evidence)
HPRT1
4 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • South West GLH
Phenotypes
  • Lesch-Nyhan syndrome, 300322
Tags
Amber Amber List (moderate evidence)
ITPR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 15, 606658
Tags
Amber Amber List (moderate evidence)
KCNC3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 13, 605259
Tags
Amber Amber List (moderate evidence)
KCND3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 19, 607346
Tags
Amber Amber List (moderate evidence)
L2HGDH
4 reviews
1 red
Unknown
Sources
  • Expert Review Amber
  • London North GLH
  • South West GLH
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Amber Amber List (moderate evidence)
NOP56
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 36, 614153
Tags
Amber Amber List (moderate evidence)
PCDH12
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • perithalamic hyperechogenicity
  • midbrain abnormalities
  • microcephaly
  • hypothalamic abnormalities
  • intellectual disability
  • periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280
  • epilepsy
Tags
Amber Amber List (moderate evidence)
PDYN
1 review
Not set
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 23, 610245
Tags
Amber Amber List (moderate evidence)
PLP1
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Spastic paraplegia 2, X-linked, 312920
  • Pelizaeus-Merzbacher disease, 312080
Tags
Amber Amber List (moderate evidence)
PPP2R2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 12, 604326
Tags
Amber Amber List (moderate evidence)
PRKCG
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 14, 605361
Tags
Amber Amber List (moderate evidence)
RNASEH2A
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • South West GLH
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333
Tags
Amber Amber List (moderate evidence)
SACS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, 270550
Tags
Amber Amber List (moderate evidence)
SCN1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • PanelApp
Phenotypes
  • Dravet syndrome
  • familial hemiplegic migraine 3
  • several epilepsy, convulsion and migraine disorders.
Tags
Amber Amber List (moderate evidence)
SIL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Amber Amber List (moderate evidence)
SLC1A3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • PanelApp
Phenotypes
  • EPISODIC ATAXIA, TYPE 6
Tags
Amber Amber List (moderate evidence)
SLC6A5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • PanelApp
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Amber Amber List (moderate evidence)
SNX14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 20, 616354
Tags
Amber Amber List (moderate evidence)
SPG7
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spastic paraplegia 7, 607259
Tags
Amber Amber List (moderate evidence)
STUB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, 615768
Tags
Amber Amber List (moderate evidence)
TGM6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 35, 613908
Tags
Amber Amber List (moderate evidence)
TMEM240
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 21, 607454
Tags
Amber Amber List (moderate evidence)
TPP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 7, 609270
Tags
Amber Amber List (moderate evidence)
TTBK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia 11, 604432
Tags
Amber Amber List (moderate evidence)
WFS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Wolfram syndrome 1, 222300
Tags
Amber Amber List (moderate evidence)
WWOX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 12, 614322
Tags
Red Red List (low evidence)
AARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCB11
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCB4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCD4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCG5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABCG8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABHD12
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ABHD5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACAD8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACAD9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACADM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACADS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACADSB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACADVL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACAT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACO2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ACY1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ADA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ADGRG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ADSL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AGA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AGK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AGL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AGPS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AGXT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AHI1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Red Red List (low evidence)
AIFM1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 300816
Tags
Red Red List (low evidence)
AKR1D1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALAD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALAS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDH3A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDH4A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDH5A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDH6A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDH7A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDOA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALDOB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG11
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG12
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG13
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALG9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALMS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ALPL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AMACR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AMN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AMPD2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
AMT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ANKS6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APOA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APOA5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APOB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APOC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APOE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APOPT1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
APRT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ARG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ARL13B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 8
Tags
Red Red List (low evidence)
ARL6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ARSB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ARSE
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ASAH1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ASL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ASPA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ASS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATAD3A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATIC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Phenotypes
  • Dentatorubro-pallidoluysian atrophy, 125370
Tags
Red Red List (low evidence)
ATP6AP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATP6V0A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATP7A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATP8A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATP8B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ATPAF2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B3GALNT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B3GALT6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B3GAT3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B3GLCT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B4GALT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B4GALT7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B4GAT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
B9D2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
  • Meckel syndrome 10, 614175
  • ciliopathies
Tags
Red Red List (low evidence)
BAAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS12
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BBS9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BCKDHA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BCKDHB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BCKDK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BDNF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
Tags
Red Red List (low evidence)
BOLA3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
BTD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
C12orf65
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
C1QBP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
C21orf2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
  • new-gene-name
Red Red List (low evidence)
C2CD3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • short-rib polydactyly syndromes (SRPS
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Red Red List (low evidence)
C5orf42
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 17
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome
Tags
  • new-gene-name
Red Red List (low evidence)
CA5A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CAMTA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CASK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CBS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CC2D2A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
  • Joubert syndrome 9
Tags
Red Red List (low evidence)
CCDC115
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CENPF
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Red Red List (low evidence)
CEP104
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 25
  • Joubert syndrome 25, 616781
Tags
Red Red List (low evidence)
CEP120
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CEP164
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CEP290
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • 611755
  • 610189
  • Senior-Loken syndrome
  • 611134
  • 610188
  • Joubert syndrome 5
  • Senior-Loken syndrome 6
  • Meckel syndrome
  • Meckel syndrome 4
  • Joubert syndrome with oculorenal defect
Tags
Red Red List (low evidence)
CEP41
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 15
Tags
Red Red List (low evidence)
CEP83
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CFAP43
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHCHD10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHKB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHMP1A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHMP2B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • familial frontotemporal lobar degeneration (ALS17)
  • Dystonia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Tags
Red Red List (low evidence)
CHST14
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHST3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHST6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CHSY1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CISD2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CLCN2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CLDN16
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CLDN19
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CLN6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CLPP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CNNM2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COA3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COA6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COG4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COG5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COG6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COG7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COG8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COQ2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COQ4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COQ6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COQ8A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COQ8B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COQ9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COX14
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COX20
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COX6A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COX6B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
COX7B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Cerebellar ataxia 604290
  • Dystonia
  • [Hypoceruloplasminemia, hereditary] 604290
  • Aceruloplasminemia
  • Hemosiderosis, systemic, due to aceruloplasminemia 604290
Tags
Red Red List (low evidence)
CPOX
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CPS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CPT1A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CPT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CRB2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Red Red List (low evidence)
CSPP1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Joubert syndrome 21
Tags
Red Red List (low evidence)
CTH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CTNS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CTSA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CTSC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CTSK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CUBN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CYC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CYCS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CYP2U1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
CYP7B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
D2HGDH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DAG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DARS
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DBH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Dopamine beta-hydroxylase deficiency, 223360
Tags
Red Red List (low evidence)
DBT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DCAF10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
Tags
Red Red List (low evidence)
DCC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DCDC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DCTN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Neuropathy, distal hereditary motor, type VIIB
Tags
Red Red List (low evidence)
DCXR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DDHD2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DDX59
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Red Red List (low evidence)
DGUOK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DHCR24
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DHCR7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Red Red List (low evidence)
DHDDS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DHFR
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • Dihydrofolate reductase deficiency
Tags
Red Red List (low evidence)
DHODH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DHTKD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DKC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DMXL2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DNA2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DNAH1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DNAJC19
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DNM1L
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DNMT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DOLK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DPAGT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DPM1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DPM2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DPM3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DPYD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DPYS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DRD2
1 review
1 red
Unknown
Sources
  • South West GLH
Phenotypes
  • Dystonia, myoclonic, 159900
Tags
Red Red List (low evidence)
DRD5
1 review
1 red
Unknown
Sources
  • South West GLH
Phenotypes
  • {Blepharospasm, primary benign}, 606798
Tags
Red Red List (low evidence)
DYM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DYNC2H1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
DYNC2LI1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EARS2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
Tags
Red Red List (low evidence)
EBP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EIF2B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EIF2B2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EIF2B3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EIF2B4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EIF2B5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ELAC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ENO3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EPG5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EPM2A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ERCC6
1 review
1 red
Unknown
Sources
  • South West GLH
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ETFA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ETFB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ETFDH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ETHE1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Ethylmalonic encephalopathy 602473
Tags
Red Red List (low evidence)
EVC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrodental dysostosis, 193530
Tags
Red Red List (low evidence)
EVC2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
Tags
Red Red List (low evidence)
EXOSC3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EXT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
EXT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FAH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FAR1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FASTKD2
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FBP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FBXL4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FDXR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FECH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FGFR2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FKRP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FKTN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FLAD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FLVCR1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FMO3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FOXP2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Speech-language disorder-1 602081
Tags
Red Red List (low evidence)
FTCD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FUCA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
FUT8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
G6PC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
G6PC3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GAA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GABRG2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GALC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GALE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GALK1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GALNS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GALNT3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GALT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GAMT
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
Tags
Red Red List (low evidence)
GARS
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
  • new-gene-name
Red Red List (low evidence)
GATM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GBA2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GBE1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GCLC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GDAP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GFAP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Alexander disease, 203450
Tags
Red Red List (low evidence)
GFER
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GFM1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GFPT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GIF
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLDC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLI3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
Red Red List (low evidence)
GLIS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLRB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Red Red List (low evidence)
GLRX5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLUD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLUL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GLYCTK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GMPPB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GNE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GNMT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GNPAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GNPTAB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GNPTG
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GNS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GOSR2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GPAA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GPD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GPHN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GRHPR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GSS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GTPBP3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GUSB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GYG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GYS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
GYS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HAAO
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HADH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HADHA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HADHB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HAMP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HCCS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HEXB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HFE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HFE2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HGD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HGSNAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HLCS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HMBS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HMGCL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HMGCS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HNF1B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HOGA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HPD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HPS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HSD17B10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HSD17B4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HSD3B7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HTT
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Huntington disease, 143100
Tags
Red Red List (low evidence)
HYAL1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
HYLS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Red Red List (low evidence)
IARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IBA57
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ICK
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Endocrine-cerebroosteodysplasia, 612651
  • ECO
  • short-rib thoracic dysplasia with polydactyly (SRTD)
Tags
  • new-gene-name
Red Red List (low evidence)
IDH2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IDS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IDUA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IER3IP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT122
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT140
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT172
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT27
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT43
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT52
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IFT80
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
INPP5E
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Red Red List (low evidence)
INVS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IQCB1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ISCU
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ISG15
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Immunodeficiency 38 616126
Tags
Red Red List (low evidence)
ISPD
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ITPA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
IVD
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Isovaleric acidemia 243500
Tags
Red Red List (low evidence)
KARS
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
KCNJ10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
KCNK18
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Tags
Red Red List (low evidence)
KCNQ3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Seizures, benign neonatal, type 2, 121201
Tags
Red Red List (low evidence)
KIAA0586
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Short-rib dysplasia 14 with polydactyly
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Joubert syndrome 23
  • Joubert syndrome
Tags
Red Red List (low evidence)
KIF7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Red Red List (low evidence)
KYNU
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LAMP2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LARGE1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LBR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LCAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LCT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LDHA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LDLR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LDLRAP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LIAS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LIPA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LIPC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LIPT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LMBRD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LONP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LPIN1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LPL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
LZTFL1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MAGT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MAN1B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MAN2B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MANBA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MAOA
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
  • London North GLH
  • PanelApp
Phenotypes
  • Brunner syndrome, 300615
  • Monoamine oxidase A deficiency
Tags
Red Red List (low evidence)
MAPKBP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MAT1A
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
Tags
Red Red List (low evidence)
MCCC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MCCC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MCEE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MCOLN1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Mucolipidosis IV, 252650
Tags
Red Red List (low evidence)
MDH2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MFF
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MFN2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MFSD8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MGAT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MGME1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MKKS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MKS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • polydactyly
  • Joubert syndrome 28
  • Joubert syndrome
  • polycystic kidneys
  • occipital encephalocele
  • Meckel-Gruber syndrome
  • 249000
  • renal fibrosis
  • Meckel syndrome
  • Bardet-Biedl syndrome
Tags
Red Red List (low evidence)
MLYCD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MMAA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MMAB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MMACHC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MMADHC
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Methylmalonic aciduria, cblD type, variant 2
  • Homocystinuria, cblD type, variant 1
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410
Tags
Red Red List (low evidence)
MOCS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MOCS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MOGS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MPDU1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MPI
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MPV17
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Tags
Red Red List (low evidence)
MR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
Tags
Red Red List (low evidence)
MRPL3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MRPS22
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MRPS34
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MSMO1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-ATP8
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-CO1
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-CO2
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-CYB
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-ND2
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-ND4L
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-RNR1
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-RNR2
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TA
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TD
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TE
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TF
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TG
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TH
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TI
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TL1
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TL2
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TM
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TN
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TP
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TQ
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TR
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TS1
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TS2
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TT
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TV
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TW
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MT-TY
1 review
1 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MTHFR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MTO1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MTPAP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MTR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MTRR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MTTP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
MUT
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Methylmalonic aciduria, mut(0) type 251000
Tags
  • new-gene-name
Red Red List (low evidence)
MVK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NAGA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NAGLU
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NAGS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFA11
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFA12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Leigh syndrome due to mitochondrial complex 1 deficiency 256000
  • ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Tags
Red Red List (low evidence)
NDUFA2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13
Tags
Red Red List (low evidence)
NDUFA4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFA9
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Red Red List (low evidence)
NDUFAF1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFAF2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, 618233
Tags
Red Red List (low evidence)
NDUFAF3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFAF4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFB11
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFB3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFB9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFS3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
  • South West GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8, 618230
  • Mitochondrial complex I deficiency 252010
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Red Red List (low evidence)
NDUFS6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NDUFV2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NEK1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NEK8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NEU1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NFU1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NHLRC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NPHP1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 4
  • 609583 Nephronophthisis 1, juvenile
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • Nephronophthisis
Tags
Red Red List (low evidence)
NPHP3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Nephronophthisis 3, 604387
  • Senior-Loken syndrome
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia
Tags
Red Red List (low evidence)
NPHP4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NSDHL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NT5C3A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NUBPL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
NUP62
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Striatonigral degeneration, infantile 271930
Tags
Red Red List (low evidence)
OAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
OCRL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
OFD1
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
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Red Red List (low evidence)
OPA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
OPHN1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
OPLAH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
OTC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
OXCT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PAH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PARK7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset
Tags
Red Red List (low evidence)
PARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PAX6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PCBD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PCK1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PCSK9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PDGFRB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Dystonia
  • Basal ganglia calcification, idiopathic, 4 615007
Tags
Red Red List (low evidence)
PDHB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PDP1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
Tags
Red Red List (low evidence)
PDPR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PDSS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PDSS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PDX1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Pancreatic agenesis 1 260370
  • MODY, type IV 606392
Tags
Red Red List (low evidence)
PEPD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX11B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX12
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX13
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX14
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX16
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX19
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX26
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PEX7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PFKM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PGAM2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PGAP2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PGAP3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PGK1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PGM1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PGM3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PHGDH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PHKA1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PHKA2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PHKB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PHKG2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PHYH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGO
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PIGV
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PITX3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Disorders of Dopamine Synthesis Regulation
Tags
Red Red List (low evidence)
PKD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PKD2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PKHD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PMM2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Red Red List (low evidence)
PMPCA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PNP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PNPLA6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PNPO
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PNPT1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 13, 614932
Tags
Red Red List (low evidence)
POLG
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
POLG2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
POMGNT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
POMGNT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
POMT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
POMT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
POR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PPA2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PPOX
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PPT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PRKAG2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PRODH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PRPS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PSAP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PSAT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PSEN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Alzheimer disease, type 3, 607822
  • Pick disease, 172700
  • Dementia, frontotemporal 600274
  • Cardiomyopathy, dilated, 1U, 613694
Tags
Red Red List (low evidence)
PSPH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PTEN
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Lhermitte-Duclos syndrome, 158350
  • Cowden syndrome 1, 158350
  • Macrocephaly/autism syndrome, 605309
  • VATER association with macrocephaly and ventriculomegaly, 276950
Tags
Red Red List (low evidence)
PTF1A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PUS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PYCR1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PYGL
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
PYGM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
QARS
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RANBP2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RBCK1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RBP4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RELN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RFT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RMND1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RNASEH1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RNF170
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RNF216
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ROBO3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RPGRIP1L
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 7
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Meckel syndrome 5
  • Meckel syndrome
Tags
Red Red List (low evidence)
RPIA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RPL10
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RRM2B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
RYR1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SAR1B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SBDS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SC5D
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SCN9A
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Paroxysmal extreme pain disorder, 167400
  • Erythermalgia, Primary
  • Erythermalgia, primary, 133020
  • Hereditary Sensory Neuropathy
  • Insensitivity to pain, channelopathy-associated, 243000
  • Congenital Indifference to Pain
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Dysosteosclerosis
  • Febrile seizures, familial, 3B, 613863
  • Paroxysmal Extreme Pain Disorder
Tags
Red Red List (low evidence)
SCO1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SCO2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SCP2
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • ?Leukoencephalopathy with dystonia and motor neuropathy, 613724
Tags
Red Red List (low evidence)
SDCCAG8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SDHA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Leigh syndrome, 256000
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Cardiomyopathy, dilated, 1GG, 613642
Tags
Red Red List (low evidence)
SDHAF1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Mitochondrial complex II deficiency, 252011
Tags
Red Red List (low evidence)
SDHAF2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SDHB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SDHC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SDHD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SEC23B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SEPSECS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SGSH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SI
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SKIV2L
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC12A3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC16A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC17A5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC18A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
  • Vesicular monoamine transporter deficiency
Tags
Red Red List (low evidence)
SLC19A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC22A5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A12
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A13
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A15
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A19
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Microcephaly, Amish type 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710
Tags
Red Red List (low evidence)
SLC25A20
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A22
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A26
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A38
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC25A46
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC2A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC35A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC35A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC35C1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC35D1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC37A4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC39A4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC39A8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC3A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC40A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC46A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • South West GLH
Phenotypes
  • Folate malabsorption, hereditary, 229050
Tags
Red Red List (low evidence)
SLC52A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC52A3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC5A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC6A19
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC6A20
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC7A7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC7A9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SLC9A6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SMPD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SMPD4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SPTBN2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SPTLC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SPTLC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SRD5A3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SSR4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ST3GAL3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ST3GAL5
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
STS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
STT3A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SUCLG1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
Red Red List (low evidence)
SUFU
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 32, 617757
Tags
Red Red List (low evidence)
SUMF1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
SYNE1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TACO1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TALDO1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TANGO2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TAT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TAZ
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TCN2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TCTEX1D2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TCTN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TCTN2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Meckel syndrome
  • Joubert syndrome, Meckel-Gruber syndrome
  • Joubert syndrome 24
Tags
Red Red List (low evidence)
TCTN3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Meckel-Gruber
  • Joubert syndrome
  • Joubert syndrome 18
  • Orofaciodigital syndrome IV
  • Mohr-Majewski syndrome
Tags
Red Red List (low evidence)
TERT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TFR2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TIMM50
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TINF2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TK2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TMEM107
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Orofaciodigital syndrome XVI 617563
  • ?Joubert syndrome 29 617562
  • Meckel syndrome 13 617562
Tags
Red Red List (low evidence)
TMEM126B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TMEM138
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 16
  • Joubert syndrome with oculorenal defect
Tags
Red Red List (low evidence)
TMEM165
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TMEM216
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome 2
  • Meckel syndrome
  • Joubert syndrome with oculorenal defect
Tags
Red Red List (low evidence)
TMEM231
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 20
  • Meckel syndrome 11, 615397
  • Joubert syndrome 20, 614970
  • Meckel syndrome
  • Joubert syndrome with oculorenal defect
Tags
Red Red List (low evidence)
TMEM237
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 14
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
Tags
Red Red List (low evidence)
TMEM5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TMEM67
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • 613550
  • 607361
  • Joubert syndrome
  • ?Bardet-Biedl syndrome?
  • COACH syndrome
  • 216360
  • Joubert syndrome 6
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • nephronophthisis
  • Senior-Boichis syndrome
  • 610688
  • Nephronophthisis 11
Tags
Red Red List (low evidence)
TMEM70
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TOE1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TRAF3IP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TREM2
1 review
1 red
Not set
Sources
  • South West GLH
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
  • Alzheimers disease
  • Frontotemporal dementia
Tags
Red Red List (low evidence)
TRIM37
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TRMU
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TRNT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TRPM6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TSEN2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TSEN34
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TSEN54
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TSFM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TTC19
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TTC21B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TTC37
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TTC8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TTPA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TUBA1A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Lissencephaly 3 611603
Tags
Red Red List (low evidence)
TUBA8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TUBB2B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TUBB3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TUFM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TUSC3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TWNK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
TXNDC15
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Meckel-Gruber syndrome
  • MGS
Tags
Red Red List (low evidence)
TYMP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UGT1A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UMOD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UMPS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UQCRB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UQCRQ
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UROC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UROD
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
UROS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VIPAS39
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VKORC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VLDLR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VPS13B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Tags
Red Red List (low evidence)
VPS33B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VPS37A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Spastic paraplegia 53, autosomal recessive, 614898
Tags
Red Red List (low evidence)
VPS53
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
VRK1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
WDPCP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
WDR19
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
WDR34
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
WDR35
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
WDR81
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
XDH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
XPNPEP3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
XPR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Basal ganglia calcification, idiopathic, 6 616413
Tags
Red Red List (low evidence)
XYLT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
XYLT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
YARS2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
Tags
Red Red List (low evidence)
ZNF423
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • PanelApp
Phenotypes
  • Joubert syndrome 19
  • Nephronophthisis 14
  • Nephronophthisis 14, 614844
  • Joubert syndrome 19, 614844
  • Joubert syndrome with oculorenal defect
Tags

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