Childhood onset dystonia, chorea or related movement disorder (Version 3.78)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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 'R57 Childhood onset dystonia, chorea or related movement disorder'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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

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.

Panel Activity

22 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Sanger)

Group: other
Workplace: other
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (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
Konstantinos Varvagiannis (Other)

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

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Emily Jones (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Lothar Schlueter (PTC Therapeutics)

Group: Other
Workplace: Industry
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Shekeeb Mohammad (The University of Sydney)

Group: Other
Workplace: Other clinical service
James Polke (North Thames GLH)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Lucy Jackson (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Julia Baptista (Faculty of Health, University of Plymouth)

Group: Other
Workplace: Other
Mafalda Gomes (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

981 Entities

981 reviewed, 181 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 981 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)	ACER3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 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, OMIM: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	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS PanelApp Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 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	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH South West GLH Phenotypes Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags to_be_confirmed_NHSE
Green Green List (high evidence)	ALDH18A1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndromeMONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 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	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 PanelApp Phenotypes Pettigrew syndrome, OMIM:304340 Dystonia 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)	ARFGEF3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes early-onset generalized dystonia, MONDO:0100016 Tags gene-checked
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 Ataxia-telangiectasia, OMIM: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)	ATP5G3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 Tags new-gene-name
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)	ATXN2_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 Tags STR
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	2 reviews 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 ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 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 Episodic ataxia, type 2, OMIM: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	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS PanelApp Phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5 Tags
Green Green List (high evidence)	CAMK4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Other Phenotypes Global developmental delay Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags gene-checked
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 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLPB	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 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)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green Green List (high evidence)	COX20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 Tags
Green Green List (high evidence)	CSTB	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800 Unverricht-Lundborg syndrome MONDO:0009698 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green Green List (high evidence)	DHDDS	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 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, OMIM:616277 Tags
Green Green List (high evidence)	EIF2AK2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Tags missense
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)	FITM2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Siddiqi syndrome OMIM:618635 siddiqi syndrome MONDO:0032842 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)	FOXG1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH Phenotypes Rett Syndrome, congenital variant OMIM:613454 Rett syndrome, congenital variant MONDO:0013270 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)	FUCA1	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Fucosidosis OMIM:230000 fucosidosis MONDO:0009254 Tags
Green Green List (high evidence)	FXN	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FXN_GAA STR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
Green Green List (high evidence)	GBA	2 reviews 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 new-gene-name
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)	GLRB	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Hyperekplexia 2 OMIM:614619 hyperekplexia 2 MONDO:0013828 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)	GNB1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GRIN1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 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)	HECW2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 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)	HNRNPH1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes HNRNPH1-related neurodevelopmental disorder Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 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)	HPRT1	7 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH South West GLH Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Dystonia Tags
Green Green List (high evidence)	HSPD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM: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, OMIM:615846 Tags
Green Green List (high evidence)	IMPDH2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green Green List (high evidence)	IRF2BPL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 Tags
Green Green List (high evidence)	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, OMIM:617643 Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446 Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 Liang-Wang syndrome, OMIM:618729 Liang-Wang syndrome, MONDO:0032886 Tags
Green Green List (high evidence)	KCNQ2	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH PanelApp Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720 developmental and epileptic encephalopathy, 7, MONDO:0013387 Myokymia, OMIM:121200 Seizures, benign neonatal, 1, OMIM:121200 seizures, benign familial neonatal, 1, MONDO:0007365 Tags Q3_23_demote_red Q3_23_expert_review
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, OMIM: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, OMIM:617284 Complex 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)	MED27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Axial hypotonia Spasticity Dystonia Cerebellar hypoplasia Cataracts Epilepsy 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)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 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)	NDUFA12	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PanelApp South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green Green List (high evidence)	NDUFA2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 13 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, OMIM: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	2 reviews 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)	NUP54	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Early-onset dystonia Tags
Green Green List (high evidence)	OCLN	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Band-like calcification with simplified gyration and polymicrogyria, 251290 Tags Q3_23_demote_red Q3_23_expert_review
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	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH PanelApp Phenotypes Basal ganglia calcification, idiopathic, 5, OMIM:615483 basal ganglia calcification, idiopathic, 5, MONDO:0014204 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)	PNPT1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Dystonia 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	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH PanelApp Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Huntington disease-like 1, OMIM:603218 Gerstmann-Straussler disease, OMIM:137440 Creutzfeldt-Jakob disease, OMIM:123400 Tags Q1_24_demote_red Q1_24_expert_review
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, OMIM: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)	RNU7-1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi–Goutières syndrome-like Type I interferonopathy Tags gene-checked
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)	SCN1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH PanelApp Phenotypes Dravet syndrome familial hemiplegic migraine 3 several epilepsy, convulsion and migraine disorders. 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 Seizures, benign familial infantile, 5, OMIM:617080 Paroxysmal kinesigenic dyskinesias Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 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)	SLC16A2	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 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 Hypermanganesemia with dystonia 1, OMIM: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)	SNORD118	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561 Tags locus-type-small-nucleolar
Green Green List (high evidence)	SPATA5L1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
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 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM: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)	TARS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 Tags
Green Green List (high evidence)	TBP_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
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	4 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	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH PanelApp Phenotypes Dystonia-1, torsion, OMIM:128100 Arthrogryposis multiplex congenita 5, OMIM:618947 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)	UBTF	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672 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)	VPS16	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 30, OMIM:619291 Dystonia Associated with Lysosomal Abnormalities Tags
Green Green List (high evidence)	VPS41	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia Intellectual disability Tags
Green Green List (high evidence)	VPS4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes CIMDAG syndrome Tags watchlist_moi
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)	YIF1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags gene-checked
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, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Amber Amber List (moderate evidence)	AASS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 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)	ACBD6	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 Tags Q1_24_promote_green
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	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 Amber South West GLH Phenotypes Developmental and epileptic encephalopathy 1, OMIM:308350 X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856 Partington syndrome, OMIM:309510 Partington syndrome, MONDO:0010654 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ASL	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 tremor, HP:0001337 Dystonia, HP:0001332 Tags Q4_23_NHS_review Q4_23_promote_green
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)	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)	COL6A3	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Dystonia 27, OMIM:616411 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)	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)	DNAJC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags Q3_23_promote_green
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)	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)	HSD17B10	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber London North GLH Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	HTT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Lopes-Maciel-Rodan syndrome, OMIM:617435 LOMARS Tags watchlist
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)	KIF1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes NESCAV syndrome, OMIM:614255 Tags
Amber Amber List (moderate evidence)	L2HGDH	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH South West GLH Phenotypes L-2-hydroxyglutaric aciduria, OMIM:236792 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	MAL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes developmental delay nystagmus progressive motor deterioration dysmyelination 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)	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)	SHQ1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 Tags Q4_23_promote_green
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)	SLC18A2	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH PanelApp Phenotypes ?Parkinsonism-dystonia, infantile, 2, OMIM:618049 Tags Q3_23_promote_green
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)	SLC30A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Birk-Landau-Perez syndrome, OMIM:617595 Tags Q3_23_promote_green
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	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Amber Amber List (moderate evidence)	SQSTM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	STUB1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 Tags
Amber Amber List (moderate evidence)	SYT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Baker-Gordon syndrome MIM#618218 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TBC1D24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105 Developmental and epileptic encephalopathy 16, OMIM:615338 Tags Q3_23_promote_green
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)	TMEM151A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Episodic kinesigenic dyskinesia 3, OMIM:620245 Tags Q3_23_NHS_review Q3_23_promote_green
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)	TSPOAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dystonia, intellectual disability and cerebellar atrophy Tags Q3_23_promote_green
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)	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	2 reviews 1 red	Other	Sources South West GLH Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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)	ATXN1	3 reviews 1 red	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN10	2 reviews	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN7	3 reviews 1 red	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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 Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 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	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Tags new-gene-name
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)	C9orf72	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags
Red Red List (low evidence)	C9orf72_GGGGCC STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red London North GLH NHS GMS Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags STR
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, OMIM: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)	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)	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)	DMPK	3 reviews 1 red	Other	Sources Expert Review Red London North GLH Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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 Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH South West GLH Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 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)	FUT8	1 review 1 red	Not set	Sources Expert Review Red London North GLH Tags
Red Red List (low evidence)	G6PC	2 reviews 1 red	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
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 Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 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)	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 new-gene-name
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)	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)	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, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 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	BIALLELIC, autosomal or pseudoautosomal	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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 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	BIALLELIC, autosomal or pseudoautosomal	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)	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)	NOP56	2 reviews	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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 Skewed X-inactivation
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)	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)	PPP2R2B	2 reviews	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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	2 reviews 1 red	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
Red Red List (low evidence)	SLC12A3	2 reviews 1 red	Not set	Sources Expert Review Red London North GLH Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
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)	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, OMIM: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)	TAT	1 review 1 red	Not set	Sources Expert Review Red London North GLH Tags
Red Red List (low evidence)	TAZ	2 reviews 1 red	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
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	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Tags new-gene-name
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	2 reviews 1 red	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
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	2 reviews 1 red	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
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)	XK	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Red Phenotypes McLeod syndrome with or without chronic granulomatous disease, OMIM:300842 McLeod neuroacanthocytosis syndrome, MONDO:0018945 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, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
No list No list	MT-ATP6	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 Tags curated_removed
No list No list	MT-ATP8	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-CO1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-CO2	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-CO3	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags curated_removed
No list No list	MT-CYB	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-ND1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 Tags curated_removed
No list No list	MT-ND2	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-ND3	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 Tags curated_removed
No list No list	MT-ND4	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes Leber Optic Atrophy And Dystonia Tags curated_removed
No list No list	MT-ND4L	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-ND5	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes Leber Optic Atrophy And Dystonia Tags curated_removed
No list No list	MT-ND6	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH PanelApp Phenotypes Leber Optic Atrophy And Dystonia Tags curated_removed
No list No list	MT-RNR1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-RNR2	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TA	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TC	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes DYSTONIA, MITOCHONDRIAL Tags curated_removed
No list No list	MT-TD	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TE	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TF	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TG	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TH	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TI	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TK	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes MERRF SYNDROME Tags curated_removed
No list No list	MT-TL1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TL2	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TM	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TN	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TP	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TQ	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TR	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TS1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TS2	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TT	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TV	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TW	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
No list No list	MT-TY	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed

Major version comments

2023-03-22 15:50 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:51 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-12 15:57 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.252) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Childhood onset dystonia, chorea or related movement disorder (Version 3.78)

22 reviewers

981 Entities

981 reviewed, 181 green

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags