Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R266 Neuromuscular arthrogryposis' 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 'R266 Neuromuscular arthrogryposis'.

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

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel is also a constituent panel of the super panel 'Arthrogryposis - broad panel'. Changes made to this panel will automatically be updated in the relevant super panel(s).

3 reviewers

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachael Mein (Viapath at Guy's Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Michael Oldridge (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

40 Entities

40 reviewed, 31 green

List Entity Reviews Mode of inheritance Details
40 Entitiess
Green Green List (high evidence)
ACTA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, actin, congenital, with excess of thin myofilaments 161800
  • Myopathy, congenital, with fiber-type disproportion 1, 255310
  • Nemaline myopathy 3, 161800
  • Myopathy, actin, congenital, with cores, 161800
Tags
Green Green List (high evidence)
CHRNA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple pterygium syndrome, lethal type, 253290
Tags
Green Green List (high evidence)
CHRNB1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • LMPS
Tags
Green Green List (high evidence)
CHRND
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple pterygium syndrome, lethal type, 253290
Tags
Green Green List (high evidence)
CHRNG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Escobar syndrome, 265000
  • Multiple pterygium syndrome, lethal type, 253290
Tags
Green Green List (high evidence)
DNM2
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, centronuclear, 160150
Tags
Green Green List (high evidence)
DOK7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • FADS
  • FETAL AKINESIA DEFORMATION SEQUENCE, 208150
Tags
Green Green List (high evidence)
DPAGT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Green Green List (high evidence)
ECEL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
Tags
Green Green List (high evidence)
LMOD3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Nemaline myopathy 10 616165
Tags
Green Green List (high evidence)
MUSK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • FADS
  • 208150
  • FETAL AKINESIA DEFORMATION SEQUENCE
Tags
Green Green List (high evidence)
MYBPC1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Lethal congenital contracture syndrome 4, 614915
  • Arthrogryposis, distal, type 1B 614335
Tags
Green Green List (high evidence)
MYH3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, type 8, 178110
  • Arthrogryposis, distal, type 2A 193700
  • Arthrogryposis, distal, type 2B 601680
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Laing Distal Myopathy, 160500
Tags
Green Green List (high evidence)
MYH8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Trismus-pseudocamptodactyly syndrome, 158300
Tags
Green Green List (high evidence)
MYL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • congenital myopathy
Tags
Green Green List (high evidence)
NEB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, 256030
  • Nemaline Myopathy, Recessive
  • nemaline myopathy
Tags
Green Green List (high evidence)
ORAI1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, tubular aggregate, 2, 615883
Tags
Green Green List (high evidence)
PIEZO2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145
  • Arthrogryposis, distal, with proprioception and touch, 617146
Tags
Green Green List (high evidence)
RAPSN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • FADS
  • FETAL AKINESIA DEFORMATION SEQUENCE, 208150
Tags
Green Green List (high evidence)
RYR1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neuromuscular disease, congenital, with uniform type 1 fiber 117000
  • Malignant hyperthermia susceptibility 1 145600
  • Central core disease 117000
  • Minicore myopathy with external ophthalmoplegia 255320
Tags
Green Green List (high evidence)
STAC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, congenital, Baily-Bloch, 255995
Tags
Green Green List (high evidence)
STIM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, tubular aggregate, 160565
Tags
Green Green List (high evidence)
TNNI2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B, 601680
Tags
Green Green List (high evidence)
TNNT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthyrogryposis, distal, type 2B, 601680
Tags
Green Green List (high evidence)
TPM2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • CAP myopathy 2 609285
  • Nemaline myopathy 4, autosomal dominant, 609285
Tags
Green Green List (high evidence)
TPM3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • CAP myopathy 1, 609284
  • Myopathy, congenital, with fiber-type disproportion, 255310
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
Tags
Green Green List (high evidence)
TTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Myopathy, early-onset, with fatal cardiomyopathy, 611705
Tags
Green Green List (high evidence)
VAMP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • presynaptic CMS
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
VPS33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Arthrogryposis renal dysfunction, and cholestasis 1, 208085
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
  • London South GLH
  • NHS GMS
Phenotypes
  • Wieacker-Wolff syndrome, 314580
Tags
Amber Amber List (moderate evidence)
ALG14
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
  • Congenital myasthenic syndrome
Tags
Amber Amber List (moderate evidence)
ALG2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndromes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
  • Congenital disorder of glycosylation CDG type Ii, 607906
Tags
Amber Amber List (moderate evidence)
CHAT
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • arthrogryposis
Tags
Amber Amber List (moderate evidence)
GMPPB
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Amber Amber List (moderate evidence)
MYO9A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome 24, presynaptic 618198
  • CMS
Tags
Amber Amber List (moderate evidence)
SCN4A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • contractures
Tags
Amber Amber List (moderate evidence)
SLC18A3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
Tags
Amber Amber List (moderate evidence)
SLC5A7
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Amber Amber List (moderate evidence)
TOR1AIP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Tags

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