Description
This panel is used for clinical indication 'R158 Lipodystrophy - childhood onset', and can also be applied as a virtual panel in the analysis of genome or exome data 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 'R158 Lipodystrophy - childhood onset'.

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

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 initially created from the green genes on the Insulin resistance (including lipodystrophy) panel (code 174) (Version 1.4), that included lipodystrophy in their associated phenotypes.



The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/546/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

This panel will continue to be curated. 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 for the GMS panels.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Robert Semple (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • David Savage (IMS MRL, Uni. Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Kevin Colclough (Royal Devon & Exeter NHS Healthcare Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

13 Entities

13 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
AGPAT2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Tags
Green Green List (high evidence)
BSCL2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 2, 269700
Tags
Green Green List (high evidence)
CAV1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • ?Lipodystrophy, congenital generalized, type 3, 612526
  • Lipodystrophy, familial partial, type 7, 606721
Tags
Green Green List (high evidence)
CAVIN1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
Tags
Green Green List (high evidence)
LIPE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Lipodystrophy, familial partial, type 6, 615980
Tags
Green Green List (high evidence)
LMNA
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, familial partial, 2, 151660
Tags
Green Green List (high evidence)
PLIN1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, familial partial, type 4, 613877
Tags
Green Green List (high evidence)
POLD1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Tags
Green Green List (high evidence)
PPARG
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Insulin resistance, severe, digenic 604367
  • Lipodystrophy, familial partial, type 3 604367
Tags
Green Green List (high evidence)
ZMPSTE24
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 608612
Tags
Red Red List (low evidence)
ADRA2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Literature
Phenotypes
  • No OMIM number
  • familial partial lipodystrophy
Tags
Red Red List (low evidence)
AKT2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Diabetes mellitus, type II, 125853
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
  • Partial lipodystrophy
Tags
Red Red List (low evidence)
CIDEC
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Lipodystrophy, familial partial, type 5, 615238
Tags

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