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  2. Multi locus imprinting disorders
The latest signed off version for the GMS is v1.2. The current version, shown here, may differ from the signed-off version.

Multi locus imprinting disorders (Version 1.18)

Level 2: Endocrinology

Relevant disorders: R417.2
Panel types: GMS Rare Disease, GMS signed-off
Latest signed off version: v1.2 (22 Mar 2023)
Previously signed off versions: v1.0
Description
This panel will be used for clinical indication 'R417 Multi locus imprinting disorders' 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 'R417 Multi locus imprinting disorders'.

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

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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.
Panel Activity

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

9 Entities

9 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green List (high evidence)
KHDC3L
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Hydatidiform mole, recurrent, 2 OMIM:614293
  • hydatidiform mole, recurrent, 2 MONDO:0013671
Tags
Green List (high evidence)
NLRP2
3 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 18, OMIM:620332
  • oocyte/zygote/embryo maturation arrest 18, MONDO:0957230
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475
Tags
  • watchlist
Green List (high evidence)
NLRP5
3 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 19, OMIM:620333
  • oocyte/zygote/embryo maturation arrest 19, MONDO:0957231
Tags
Green List (high evidence)
NLRP7
2 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Affected tissue: all (incompatible with life)
  • Multi Locus Imprinting Disturbance
  • hydatidiform mole, recurrent, 1 MONDO:0009273
Tags
Green List (high evidence)
PADI6
1 review
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • preimplantation embryonic lethality 2 MONDO:0014978
  • Beckwith-Wiedemann syndrome
  • Multi Locus Imprinting Disturbance
Tags
Amber List (moderate evidence)
GRB10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Silver-Russell syndrome 2, OMIM:618905
Tags
Amber List (moderate evidence)
PLAGL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • {Diabetes mellitus, transient neonatal 1} , OMIM:601410
Tags
Amber List (moderate evidence)
ZFP57
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • {Diabetes mellitus, transient neonatal 1}, OMIM:601410
  • Multi-locus imprinting disturbance (MLID)
Tags
  • to_be_confirmed_NHSE
Red List (low evidence)
OOEP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Multi-locus imprinting disturbance (MLID)
Tags

Major version comments

  • 2022-11-30 14:40 Catherine Snow (Genomics England) promoted panel to 1.0
    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 (1.0) following this

Downloads

Download lists

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

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