Arthrogryposis (Version 5.22)

The latest signed off version for the GMS is v5.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R83 Arthrogryposis' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R83 Arthrogryposis'.

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

25 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrea Haworth (ACGS, Congenica)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
julien thevenon (CHU de Dijon)

Group: Other
Workplace: Other clinical service
Julie Vogt (West Midlands Regional Genetics Service)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Emma Clement (Great Ormond Street Hospital)

Group: GeCIP domain
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

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

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

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

Group: Other
Workplace: Other
Ataf Sabir (Birmingham Women's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

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

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Simon Thomas (Wessex)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Zerin Hyder (Genomics England)

Group: Other
Workplace: Other
Hannah Robinson (South West Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Lucy Jackson (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

298 Entities

281 reviewed, 151 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 298 Entitiess
Green Green List (high evidence)	ACTA1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, actin, congenital, with cores, OMIM:161800 Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800 Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 CMD with rigid spine Tags
Green Green List (high evidence)	ADAMTS10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Weill-Marchesani syndrome 1, recessive 277600 Tags
Green Green List (high evidence)	ADAMTS15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Arthrogryposis, distal, type 12, OMIM:620545 Tags
Green Green List (high evidence)	ADCY6	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 8, OMIM:616287 Lethal congenital contracture syndrome 8, MONDO:0014570 Tags
Green Green List (high evidence)	ADGRG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 9 616503 Tags
Green Green List (high evidence)	ALG3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Id, 601110 Tags
Green Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Hyaline fibromatosis syndrome 228600 Tags
Green Green List (high evidence)	ASCC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 2, 616867 Spinal muscular atrophy arthrogryposis fetal akinesia hypotonia contractures Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome 605039 Tags
Green Green List (high evidence)	ATP1A2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency Tags
Green Green List (high evidence)	B3GALNT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11 congenital muscular dystrophies Tags
Green Green List (high evidence)	B4GAT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 Tags
Green Green List (high evidence)	BICD2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes arthrogryposis multiplex congenita Spinal muscular atrophy, lower extremity-predominant, 2A, 615290 autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 Tags
Green Green List (high evidence)	CACNA1E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 69, 618285 congenital joint contractures Tags
Green Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myasthenic syndrome, congenital, associated with episodic apnea, 254210 Tags
Green Green List (high evidence)	CHRNA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, slow-channel congenital, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290 Tags
Green Green List (high evidence)	CHRNB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, slow-channel congenital, 601462 Tags
Green Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Multiple pterygium syndrome, lethal type, OMIM:253290 Tags
Green Green List (high evidence)	CHRNE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809 Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Escobar syndrome 265000 Multiple pterygium syndrome, lethal type 253290 Myasthenia gravis, neonatal transient (2) Tags
Green Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 7, OMIM:616286 Tags
Green Green List (high evidence)	COL12A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ullrich congenital muscular dystrophy 2, bethlem myopathy 2 Tags
Green Green List (high evidence)	COL25A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder Tags
Green Green List (high evidence)	COL6A1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ullrich congenital muscular dystrophy 1 254090 Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600 Tags
Green Green List (high evidence)	COL6A3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green Green List (high evidence)	COLQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 5 603034 Tags
Green Green List (high evidence)	CRLF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cold-induced sweating syndrome 1 272430 Tags
Green Green List (high evidence)	DAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes congenital muscular dystrophies congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9 Tags
Green Green List (high evidence)	DHCR24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dermosterolsis, 602398 Tags
Green Green List (high evidence)	DNM2	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lethal congenital contracture syndrome 5 615368 Tags
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myasthenia, limb-girdle, familial, 254300 Fetal akinesia deformation sequence, 208150 Tags
Green Green List (high evidence)	DPAGT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital disorder of glycosylation, type Ij, 608093 Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 Tags
Green Green List (high evidence)	DYNC1H1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes arthrogryposis neuronal migration abnormalities Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 Tags
Green Green List (high evidence)	EBP	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 list Expert Review Green Phenotypes Chondrodysplasia punctata, X-linked dominant, OMIM:302960 Tags
Green Green List (high evidence)	ECEL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, distal, type 5D, 615065 Tags
Green Green List (high evidence)	ERBB3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Lethal congenital contractural syndrome 2 OMIM:607598 lethal congenital contracture syndrome 2 MONDO:0011868 Tags founder-effect
Green Green List (high evidence)	ERCC5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrooculofacioskeletal syndrome 3, OMIM:616570 Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 Tags
Green Green List (high evidence)	ERCC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cockayne syndrome, type B 133540 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cockayne syndrome, type A 216400 Tags
Green Green List (high evidence)	ERGIC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100 Tags gene-checked
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Raine syndrome 259775 Tags
Green Green List (high evidence)	FBN2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363 Tags
Green Green List (high evidence)	FGFR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes CATSHL syndrome 610474 Tags
Green Green List (high evidence)	FILIP1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes arthrogryposis multiplex congenita, MONDO:0015168 Tags gene-checked
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bruck syndrome 1 259450 Tags
Green Green List (high evidence)	FKRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	FKTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fukuyama congenital muscular dystrophy Fukuyama Congenital Muscular Dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	FLNA	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 list Expert Review Green Phenotypes Frontometaphyseal dysplasia 1, OMIM:305620 Otopalatodigital syndrome, type I, OMIM:311300 Otopalatodigital syndrome, type II, OMIM:304120 Terminal osseous dysplasia, OMIM:300244 Tags
Green Green List (high evidence)	FLNB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	FLNC	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green Green List (high evidence)	GBA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gaucher disease, perinatal lethal 608013 Tags new-gene-name
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Green Green List (high evidence)	GLDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 11, OMIM:617194 Tags
Green Green List (high evidence)	GLE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890 lethal arthrogryposis with anterior horn cell disease Tags
Green Green List (high evidence)	GMPPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717 Tags
Green Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Popliteal pterygium syndrome 1 119500 Tags
Green Green List (high evidence)	ISPD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genitopatellar syndrome 606170 Tags
Green Green List (high evidence)	KCNK3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental disorder with sleep apnea Tags
Green Green List (high evidence)	KIAA1109	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alkuraya-Kucinskas syndrome 617822 Tags new-gene-name
Green Green List (high evidence)	KIDINS220	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501 Tags
Green Green List (high evidence)	KIF21A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes arthrogryposis, MONDO:0008779 fetal akinesia Tags
Green Green List (high evidence)	KLHL40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Green Green List (high evidence)	KLHL41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 9, 615731 (3) Tags
Green Green List (high evidence)	KLHL7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cold-induced sweating syndrome 3 617055 Tags
Green Green List (high evidence)	LAMA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, LAMA2-related Muscular dystrophy, congenital merosin-deficient, 607855 Tags
Green Green List (high evidence)	LARGE1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	LGI4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 Tags
Green Green List (high evidence)	LMOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nemaline myopathy 10, OMIM:616165 Tags
Green Green List (high evidence)	LMX1B	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Other Phenotypes Nail-patella syndrome, 161200 Nail Patella syndrome NPS Tags
Green Green List (high evidence)	MAGEL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Other Phenotypes Schaaf-Yang syndrome, OMIM:615547 Prader-Willi-Like syndrome Tags
Green Green List (high evidence)	MED12	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes MED12-related disorders Opitz-Kaveggia syndrome, OMIM:305450 Ohdo syndrome, X-linked, OMIM:300895 Lujan-Fryns syndrome, OMIM:309520 Tags
Green Green List (high evidence)	MTM1	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 Emory Genetics Laboratory Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fetal akinesia deformation sequence 208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325 Tags
Green Green List (high evidence)	MYBPC1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, distal, type 1B, 614335 Lethal congenital contracture syndrome 4, 614915 Distal Arthrogryposis Tags
Green Green List (high evidence)	MYH3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Arthrogryposis, distal, type 2A, 193700 Arthrogryposis, distal, type 2B, 601680 Arthrogryposis Multiplex Congenita Tags
Green Green List (high evidence)	MYH8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Trismus-pseudocamptodactyly syndrome (ARTHROGRYPOSIS, DISTAL, TYPE 7 DA7) 158300 Tags
Green Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266 Tags
Green Green List (high evidence)	NEB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes nemaline myopathy Nemaline Myopathy, Recessive Nemaline myopathy 2, autosomal recessive, 256030 Tags
Green Green List (high evidence)	NEK9	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262 Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660 Lethal congenital contracture syndrome 10, OMIM:617022 NEK9-related lethal skeletal dysplasia, MONDO:0014870 Tags
Green Green List (high evidence)	ORAI1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green UKGTN Phenotypes Myopathy, tubular aggregate, 1 160565 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870 Tags
Green Green List (high evidence)	PEX11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 14B 614920 Tags
Green Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) 614859 Tags
Green Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green Green List (high evidence)	PEX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) 614883 Tags
Green Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) 614876 Tags
Green Green List (high evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) 614886 Tags
Green Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866 Tags
Green Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) 614872 Tags
Green Green List (high evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110 Tags
Green Green List (high evidence)	PEX6	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Rhizomelic chondrodysplasia punctata, type 1 215100 Tags
Green Green List (high evidence)	PFKM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glycogen storage disease VII 232800 Tags
Green Green List (high evidence)	PIEZO2	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Marden-Walker syndrome, 248700 Arthrogryposis, distal, type 3, 114300 Arthrogryposis, distal, type 5, 108145 Tags
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, type VI 225400 Tags
Green Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bruck syndrome 2 609220 Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMGNT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type Walker-Warburg syndrome Tags
Green Green List (high evidence)	POMK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 Tags
Green Green List (high evidence)	POMT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Tags
Green Green List (high evidence)	PRG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 Tags
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Myasthenic Syndrome, Recessive Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, Tags
Green Green List (high evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type 263650 Tags
Green Green List (high evidence)	RYR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 congenital muscular dystrophies Minicore myopathy with external ophthalmoplegia 255320 Tags
Green Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Van den Ende-Gupta syndrome 600920 Tags
Green Green List (high evidence)	SCN1A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita Dravet syndrome, OMIM:607208 Tags
Green Green List (high evidence)	SCN4A	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620 Tags
Green Green List (high evidence)	SELENON	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital myopathy 3 with rigid spine, OMIM:602771 Tags
Green Green List (high evidence)	SKI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Shprintzen-Goldberg syndrome 182212 Tags
Green Green List (high evidence)	SLC29A3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Tags
Green Green List (high evidence)	SLC5A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 20, presynaptic 617143 Tags
Green Green List (high evidence)	SLC6A9	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Glycine encephalopathy with normal serum glycine, OMIM:617301 Tags
Green Green List (high evidence)	SMAD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 3 613795 Tags
Green Green List (high evidence)	SMAD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myhre syndrome 139210 Tags
Green Green List (high evidence)	SMN1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes arthrogryposis Spinal muscular atrophy-1, 253300 Spinal muscular atrophy-2, 253550 Spinal muscular atrophy-3, 253400 Spinal muscular atrophy-4, 271150 Tags
Green Green List (high evidence)	SMPD4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis Tags
Green Green List (high evidence)	STAC3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Baily-Bloch, 255995 Tags
Green Green List (high evidence)	STIM1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy, tubular aggregate, 160565 Stormorken syndrome 185070 Tags missense
Green Green List (high evidence)	SYNE1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 Tags
Green Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 4 614816 Tags
Green Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Loeys-Dietz syndrome 5 615582 Tags
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Loeys-Dietz syndrome 1 609192 Tags
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Loeys-Dietz syndrome 2 610168 Tags
Green Green List (high evidence)	TMEM5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags new-gene-name
Green Green List (high evidence)	TNNI2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Arthrogryposis multiplex congenita, distal, type 2B, 601680 Arthrogryposis Multiplex Congenita Distal Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, Type 2B Tags
Green Green List (high evidence)	TNNT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes nemaline myopathy Nemaline Myopathy, Recessive Nemaline myopathy 5, Amish type, 605355 Tags
Green Green List (high evidence)	TNNT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Green Green List (high evidence)	TOR1A	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Green Green List (high evidence)	TOR1AIP1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Green Green List (high evidence)	TPM2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 Arthrogryposis, distal, type 2B, 601680 Nemaline myopathy 4, autosomal dominant, 609285 CAP myopathy 2, 609285 Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, Type 1A DA1A Arthrogryposis, Distal, Type 2B DA2B distal arthrogryposis Escobar syndrome congenital myopathy nemaline myopathy Nemaline Myopathy, Dominant Tags
Green Green List (high evidence)	TPM3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes nemaline myopathy Nemaline Myopathy Nemaline myopathy 1, autosomal dominant or recessive, 609284 Myopathy, congenital, with fiber-type disproportion 255310 Tags
Green Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Spinal muscular atrophy, distal, congenital nonprogressive 600175 Metatropic dysplasia 156530 Tags
Green Green List (high evidence)	TSEN54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green Green List (high evidence)	TTN	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital titinopathy with arthrogryposis Hereditary Myopathy with Early Respiratory Failure Cardiomyopathy, familial hypertrophic, 9, 613765 Hereditary Myopathy with Early Respiratory Failure (dominant) Udd Distal Myopathy (Dominant) Salih Myopathy (recessive) core myopathy with heart disease Tags
Green Green List (high evidence)	UBA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal muscular atrophy, X-linked 2, infantile 301830 Tags
Green Green List (high evidence)	VAMP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes presynaptic CMS Congenital myasthenic syndrome Tags
Green Green List (high evidence)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) Tags
Green Green List (high evidence)	VPS33B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Arthrogryposis, Renal Dysfunction, And Cholestasis 1 arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome Tags
Green Green List (high evidence)	ZC4H2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Wieacker-Wolff syndrome, OMIM:314580 Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags
Green Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Restrictive dermopathy, lethal 275210 Tags
Amber Amber List (moderate evidence)	ACTC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal arthrogryposis, MONDO:0019942 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ATAD1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperekplexia 4, 618011 Tags
Amber Amber List (moderate evidence)	CNTN1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Compton-North, OMIM:612540 Tags
Amber Amber List (moderate evidence)	COASY	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643 Tags watchlist
Amber Amber List (moderate evidence)	DPM2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Amber Amber List (moderate evidence)	LGI3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	MYLPF	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis, distal, type 1C, OMIM:619110 Arthrogryposis, distal, type 1C, MONDO:0030847 Tags watchlist
Amber Amber List (moderate evidence)	MYOD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 Tags watchlist
Amber Amber List (moderate evidence)	NUP88	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Fetal akinesia deformation sequence 4, OMIM:618393 Fetal akinesia deformation sequence 4, MONDO:0100104 Tags
Amber Amber List (moderate evidence)	PIP5K1C	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lethal congenital contractural syndrome 3 611369 Tags founder-effect
Amber Amber List (moderate evidence)	SCYL2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766 Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MONDO:0032903 Tags watchlist
Amber Amber List (moderate evidence)	SLC18A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 arthrogryposis Tags
Amber Amber List (moderate evidence)	SVIL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Myofibrillar myopathy 10, OMIM:619040 Tags
Amber Amber List (moderate evidence)	TRIP4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209 Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 Tags
Red Red List (low evidence)	ABHD5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Chanarin-Dorfman syndrome 275630 Tags
Red Red List (low evidence)	ACADM	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ACADS	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ACADVL	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ADSL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	AGL	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	AGRN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Fetal akinesia deformation sequence (FADS) Tags
Red Red List (low evidence)	AIMP1	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ALG14	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ALG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Tags
Red Red List (low evidence)	ANO5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 Limb-Girdle Muscular Dystrophy, Recessive Tags
Red Red List (low evidence)	ANXA3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes unknown equinus deformity Tags
Red Red List (low evidence)	ATP2A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Brody Myopathy Brody myopathy, 601003 Tags
Red Red List (low evidence)	BAG3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 6, 612954Cardiomyopathy, dilated, 1HH, 613881 Myofibrillar Myopathy, Dominant Tags
Red Red List (low evidence)	BIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Centronuclear Myopathy, Recessive Myopathy, centronuclear, autosomal recessive, 255200 Tags
Red Red List (low evidence)	C12orf65	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Red Red List (low evidence)	CAMLG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Congenital disorder of glycosylation, type IIz, OMIM:620201 Tags
Red Red List (low evidence)	CAPN3	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	CAV3	0 reviews	Not set	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type IC, 607801Rippling muscle disease, 606072Creatine phosphokinase, elevated serum, 123320Myopathy, distal, Tateyama type, 614321Cardiomyopathy, familial hypertrophic, 192600 Tags
Red Red List (low evidence)	CCDC47	2 reviews	Not set	Sources Expert Review Red Tags gene-checked
Red Red List (low evidence)	CCDC78	0 reviews	Not set	Sources Expert Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, centronuclear, 4, 614807 Tags
Red Red List (low evidence)	CEP55	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly, 236500 Tags
Red Red List (low evidence)	CFL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 7, autosomal recessive, 610687 Nemaline Myopathy, Recessive Tags
Red Red List (low evidence)	CHCHD10	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Tags
Red Red List (low evidence)	CHKB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Congenital Muscular Dystrophy, CKHB-related Muscular dystrophy, congenital, megaconial type, 602541 Tags
Red Red List (low evidence)	CHMP1A	1 review	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	CLCF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	COL4A1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes walker warburg syndrome, muscle eye brain disease Tags
Red Red List (low evidence)	COL4A2	1 review 1 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	COL9A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Red Red List (low evidence)	CPT2	1 review	Not set	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Red Red List (low evidence)	CRYAB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Red Red List (low evidence)	CTDP1	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	CUL4B	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	DES	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes myofibrillar myopathy Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325 Myofibrillar Myopathy, Dominant Tags
Red Red List (low evidence)	DMD	2 reviews 1 green	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045 Duchenne or Becker muscular dystrophy Tags Skewed X-inactivation
Red Red List (low evidence)	DMPK	2 reviews 1 green	Other	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DNAJB6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Myofibrillar Myopathy, Dominant Tags
Red Red List (low evidence)	DOLK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes CDG Im Tags
Red Red List (low evidence)	DPM1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags
Red Red List (low evidence)	DPM3	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes congenital muscular dystrophies Tags
Red Red List (low evidence)	DUX4	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Facioscapulohumeral Muscular Dystrophy 1A Tags
Red Red List (low evidence)	DYSF	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130 Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Limb-Girdle Muscular Dystrophy, Recessive Tags
Red Red List (low evidence)	EGR2	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	EMD	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 Tags
Red Red List (low evidence)	ERCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cerebrooculofacioskeletal syndrome 4, 610758 Tags
Red Red List (low evidence)	ETFA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Glutaric acidemia IIA 231680 Tags
Red Red List (low evidence)	ETFB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Glutaric acidemia IIB 231680 Tags
Red Red List (low evidence)	ETFDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Glutaric acidemia IIC 231680 Tags
Red Red List (low evidence)	EXOSC9	1 review	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	FAM111B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3) Tags
Red Red List (low evidence)	FHL1	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	FKBP14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, Tags
Red Red List (low evidence)	GAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	GARS	2 reviews	Not set	Sources Expert list Expert Review Red Tags new-gene-name
Red Red List (low evidence)	GDAP1	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	GFER	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Tags
Red Red List (low evidence)	GFM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM:618397 Tags
Red Red List (low evidence)	GFPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Myasthenic Syndrome, Recessive Myasthenia, congenital, with tubular aggregates 1, 610542 Tags
Red Red List (low evidence)	GNE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nonaka myopathy 605820 Tags
Red Red List (low evidence)	GRN	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300 Tags
Red Red List (low evidence)	HADH	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	HADHA	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	HADHB	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	HNRNPA1	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal Tags
Red Red List (low evidence)	HRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Tags
Red Red List (low evidence)	IBA57	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 Tags
Red Red List (low evidence)	IGHMBP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neuronopathy, distal hereditary motor, type VI 604320 Tags
Red Red List (low evidence)	ISCU	1 review	Not set	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Tags
Red Red List (low evidence)	ISLR2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes hydrocephalus arthrogryposis Tags
Red Red List (low evidence)	ITGA7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Congenital Muscular Dystrophy, ITGA7-related Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 Tags
Red Red List (low evidence)	KBTBD13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline Myopathy, Dominant Nemaline myopathy 6, autosomal dominant, 609273 Tags
Red Red List (low evidence)	KIF26B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red Red List (low evidence)	KIF5C	1 review	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	L1CAM	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Other Phenotypes arthrogryposis congenital hypopituitarism Tags
Red Red List (low evidence)	LAMP2	1 review	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Danon disease 300257 Tags
Red Red List (low evidence)	LDB3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myofibrillar Myopathy, Dominant Myopathy, myofibrillar, 4, 609452 Tags
Red Red List (low evidence)	LMNA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Muscular Dystrophy, LMNA-related (Dominant) Emery-Dreifuss muscular dystrophy 2, AD, 181350 Tags
Red Red List (low evidence)	LPIN1	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	MATR3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Amyotrophic lateral sclerosis 21 606070 Tags
Red Red List (low evidence)	MEGF10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 Tags
Red Red List (low evidence)	MFN2	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	MICU1	2 reviews 1 green	Not set	Sources Expert Review Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy with extrapyramidal signs, 615673 (3) myopathy with extrapyramidal signs Tags
Red Red List (low evidence)	MPZ	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Neuropathy, congenital hypomyelinating 605253 Tags
Red Red List (low evidence)	MT-TL1	1 review	MITOCHONDRIAL	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	MTMR1	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	MYF6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Centronuclear Myopathy, Dominant Myopathy, centronuclear, 3, 614408 Tags
Red Red List (low evidence)	MYH14	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 4A, 600652Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Tags
Red Red List (low evidence)	MYH2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 Tags
Red Red List (low evidence)	MYH7	4 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Tags
Red Red List (low evidence)	MYL1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 Tags
Red Red List (low evidence)	MYO9A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 Tags
Red Red List (low evidence)	MYOT	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Red Red List (low evidence)	NEFL	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	PABPN1	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculopharyngeal muscular dystrophy, 164300 Oculopharyngeal muscular dystrophy Tags
Red Red List (low evidence)	PI4KA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 Tags
Red Red List (low evidence)	PIGS	1 review	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PLEC	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Red Red List (low evidence)	PNPLA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Neutral Lipid Storage Disease with Myopathy Neutral lipid storage disease with myopathy, 610717 Tags
Red Red List (low evidence)	POLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	PSD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Phenotypes Antecubital pterygium syndrome Tags
Red Red List (low evidence)	PUS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia Tags
Red Red List (low evidence)	PYGM	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	RBCK1	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Red Red List (low evidence)	RRM2B	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SGCA	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SGCB	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SGCD	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SGCG	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SIL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SLC22A5	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SLC25A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes mitochondrial myopathy Tags
Red Red List (low evidence)	SLC25A42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction Tags
Red Red List (low evidence)	SLC35A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Arthrogryposis, mental retardation, and seizures 615553 Tags
Red Red List (low evidence)	SLC52A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	SMCHD1	3 reviews 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Red Red List (low evidence)	STIM2	1 review	Not set	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	SYNE2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 Tags
Red Red List (low evidence)	SYT2	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, 616040 Tags
Red Red List (low evidence)	TBCD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Tags
Red Red List (low evidence)	TCAP	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Red Phenotypes Congenital muscular dystrophies Tags
Red Red List (low evidence)	TIA1	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, 604454 Tags
Red Red List (low evidence)	TK2	1 review	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	TMEM43	2 reviews 1 red	Not set	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400 Tags
Red Red List (low evidence)	TRIM32	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	TSEN2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	TSEN34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Pontocerebellar hypoplasia type 2C 612390 Tags
Red Red List (low evidence)	UNC50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Arthrogryposis multiplex congenita Tags
Red Red List (low evidence)	UTRN	0 reviews	Not set	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	VCP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 Inclusion body myopathy,Paget disease and frontotemporal dementia 1, 167320 Inclusion Body Myopathy, Dominant Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Tags
Red Red List (low evidence)	VPS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Arthrogryposis OrphaNet ORPHA1037 OMIM108120 Tags
Red Red List (low evidence)	YARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Red Red List (low evidence)	ZNF335	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 10, primary, autosomal recessive Tags

Major version comments

2023-03-22 15:10 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 5.0
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 (5.0) following this.

2022-11-30 14:32 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
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 (4.0) following this.

2019-12-10 11:52 Rebecca Foulger (Genomics England curator) promoted panel to 3.0
The content of this panel (version 2.121) was signed off under NHS Genomic Medicine Service governance on (10/December/2019). The panel was promoted to the next major version (version 3.0) as a result of this.

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

Arthrogryposis (Version 5.22)

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