Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

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

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Neil shah (GOSH)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

27 Entities

27 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green Green List (high evidence)
ACTG2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral myopathy 155310
Tags
Green Green List (high evidence)
ATRX
2 reviews
2 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 Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome 301040
Tags
Green Green List (high evidence)
CLMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital short bowel syndrome 615237
Tags
Green Green List (high evidence)
DES
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, myofibrillar, 1 601419
Tags
Green Green List (high evidence)
DMD
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Duchenne muscular dystrophy 310200
Tags
  • gene-therapy-trial
Green Green List (high evidence)
FLNA
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Intestinal pseudoobstruction, neuronal 300048
  • Congenital short bowel syndrome 300048
Tags
Green Green List (high evidence)
IDS
2 reviews
2 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 Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis II 309900
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
Tags
Green Green List (high evidence)
RET
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Hirschsprung disease, susceptibility to, 1} 142623
Tags
  • polygenic
Green Green List (high evidence)
RRM2B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MIRAGE syndrome 617053
Tags
  • missense
Green Green List (high evidence)
SCN11A
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII 615548
Tags
Green Green List (high evidence)
SOX10
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 4C 613266
Tags
Green Green List (high evidence)
TMEM70
2 reviews
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
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Tags
Green Green List (high evidence)
TYMP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
Tags
Amber Amber List (moderate evidence)
GDNF
2 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hirschsprung disease, susceptibility to, 3} 613711
Tags
  • polygenic
Amber Amber List (moderate evidence)
L1CAM
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
Tags
Amber Amber List (moderate evidence)
PTEN
2 reviews
Not set
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome 153480
Tags
Red Red List (low evidence)
CAVIN1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 613327
Tags
Red Red List (low evidence)
COG7
2 reviews
1 red
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type IIe 608779
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Red Red List (low evidence)
EVC2
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ellis-van Creveld syndrome, with chronic intestinal pseudo-obstruction 225500
Tags
Red Red List (low evidence)
MT-TK
3 reviews
2 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Tags
Red Red List (low evidence)
SGO1
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Chronic atrial and intestinal dysrhythmia 616201
Tags
  • founder-effect
Red Red List (low evidence)
SMO
2 reviews
2 red
Other - please specify in evaluation comments
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
  • mosaicism
Red Red List (low evidence)
TTC7A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome 243150
Tags

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