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This Panel is marked as Internal

Test MOI validation panel - do not edit (Version 0.99)


Panel types: Testing
Description
DO NOT EDIT THIS PANEL 
This is a panel that has been created for data integrity test validation only.  It should not be used for genome interpretation, but should be used for validation of data integrity tests only.  It will not be used in production but will be used when production data is copied to the test environment.

Please contact Eleanor Williams if you wish to edit this panel. 

Additional gene for MOI checking is https://panelapp.genomicsengland.co.uk/panels/651/gene/CDKN1C/ - has a non-standard MOI.
Panel Activity

3 reviewers

  • Alison Coffey (Illumina Clinical Services Laboratory, Illumina Inc.)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

35 Entities

5 reviewed, 35 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green List (high evidence)
A2M
1 review
 MoNOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Allowed values MOI test - gene with non-standard MOI
Tags
Green List (high evidence)
A2ML1
1 review
 Unknown
Sources
  • Expert Review Green
Phenotypes
  • Allowed values MOI test - gene with 'unknown' MOI
Tags
Green List (high evidence)
A4GALT
1 review
 Other
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Allowed values MOI test - gene with 'other' MOI uploaded from file
Tags
Green List (high evidence)
AAAS
0 reviews
 Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values MOI test - gene with 'other' MOI selected through web interface
Tags
Green List (high evidence)
ABO
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - monoallelic but associated with disorder with no inheritance given in OMIM
Tags
Green List (high evidence)
ACAN
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Tags
  • gene-checked
Green List (high evidence)
ALMS1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is Both mono and bialllelic and OMIM has only AR
Tags
Green List (high evidence)
BMP6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • No phenotype in OMIM and no tag
Tags
Green List (high evidence)
CACNA1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - is biallelic but AD in OMIM
Tags
Green List (high evidence)
CAMK4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • No phenotype in OMIM but has tag to say checked
Tags
  • gene-checked
Green List (high evidence)
CCDC47
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - has no OMIM gene ID in PanelApp
Tags
Green List (high evidence)
EBP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - XLR but OMIM has XLD, XLR
Tags
Green List (high evidence)
EZH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Across panel tests - imprinting different
Tags
Green List (high evidence)
GH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - is monoallelic but both AR, AD in OMIM
Tags
Green List (high evidence)
HCN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Across panel test - monoallelic on all panels
Tags
Green List (high evidence)
IL18BP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is monoalllelic but AR in OMIM
Tags
Green List (high evidence)
KDM6A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is X-linked biallelic, but OMIM has XLD
Tags
Green List (high evidence)
KIR2DL2
3 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gene with no Ensembl ID for GRCh38 (release 90)
Tags
  • currently-ngs-unreportable
  • ensembl_ids_known_missing
Green List (high evidence)
MT-CYB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values test - gene on MT genome but doesn't have MITOCHONDRIAL MOI
Tags
Green List (high evidence)
NDUFA1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is X-linked monoallelic, but OMIM has XLR
Tags
Green List (high evidence)
OFD1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is X-linked monoallelic but is XLD,XLR in OMIM
Tags
Green List (high evidence)
PKD1
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is Both mono and biallelic and OMIM only AD
  • Across panel tests
Tags
Green List (high evidence)
PRSS1
0 reviews
 MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values MOI test - gene on chr 7 but has mitochondrial MOI
Tags
Green List (high evidence)
SHD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is Monallelic, maternally imprinted, but OMIM has no MOI
Tags
Green List (high evidence)
SHOX
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values MOI test - gene on chr X but in pseudoautosomal region so can have different MOI
  • Across panels tests
Tags
  • Pseudoautosomal region 1
Green List (high evidence)
SLC25A1
0 reviews
 Not set
Sources
  • Expert Review Green
Phenotypes
  • Allowed values MOI test - gene with no MOI set
Tags
Green List (high evidence)
SLC35A2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - X-linked monoallelic MOI but SMo, XLD in OMIM
Tags
Green List (high evidence)
SLC5A7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Across panel tests
Tags
Green List (high evidence)
SPG7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - is bialllelic but OMIM has AD, AR
Tags
Green List (high evidence)
SRY
0 reviews
 Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values test - gene on chr Y and is allowed 'other' as MOI
Tags
Green List (high evidence)
TREM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - biallelic on panel and AR in OMIM - do not report
Tags
Green List (high evidence)
TREX1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is Both Bi and mono, AD, AR in OMIM - agree
Tags
Green List (high evidence)
WNT5A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values MOI test - gene on chr 3 but has an X-chromosome MOI
  • Across panels tests
Tags
Green List (high evidence)
ZFY
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values test - gene on chr Y but does not have 'other' as the MOI
Tags
Green List (high evidence)
ZIC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values MOI test - gene on X chromosome but not X-chromosome MOI
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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