Description
Obesity inclusion criteria (29426)
- Syndromic or non-syndromic severe obesity (BMI > 3SD above the mean)
- Onset before age 5 years

Obesity exclusion criteria (29426)
- Known cause of obesity, e.g. steroid treatment

Prior genetic testing guidance (29426)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Obesity prior genetic testing genes (29426)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)
 - Where the phenotype is recognisable and is caused by 1-2 principle genes, these should have been tested prior to recruitment

Closing statement (29426)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • stephen o'rahilly (university of cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ayesha Ahmed (GEL)

    Group: Other
    Workplace: GEL

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

39 genes

35 reviewed, 21 green

List Gene Reviews Mode of inheritance Details
39 genes
Green Green List (high evidence)
ALMS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Alstrom syndrome associated with obesity
  • Truncal obesity (onset in childhood)
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 3
Green Green List (high evidence)
BBS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 1
Green Green List (high evidence)
BBS10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Bardet-Biedl syndrome 10
  • obesity
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Bardet-Biedl syndrome 12
  • obesity
Green Green List (high evidence)
BBS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 2
Green Green List (high evidence)
BBS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 4
Green Green List (high evidence)
BBS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 5
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 7
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 9
Green Green List (high evidence)
LEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin deficiency, 614962
  • Congenital Obesity
Green Green List (high evidence)
LEPR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, 614963
  • Congenital Obesity
Green Green List (high evidence)
MC4R
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, autosomal dominant, 601665
  • Congenital Obesity
Green Green List (high evidence)
MKKS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 6
Green Green List (high evidence)
MKS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 13
Green Green List (high evidence)
PCSK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity with impaired prohormone processing, 600955
  • {Obesity, susceptibility to, BMIQ12}, 612362
  • Congenital Obesity
Green Green List (high evidence)
PHF6
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Borjeson-Forssman-Lehmann syndrome
Green Green List (high evidence)
POMC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734
  • {Obesity, early-onset, susceptibility to}, 601665
  • Congenital Obesity
Green Green List (high evidence)
SDCCAG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 16
Green Green List (high evidence)
TTC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 8
Green Green List (high evidence)
VPS13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Cohen syndrome
  • Truncal obesity developing in mid-childhood
Amber Amber List (moderate evidence)
MYT1L
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • obesity
  • intellectual disability
Amber Amber List (moderate evidence)
SH2B1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • obesity
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Amber Amber List (moderate evidence)
SIM1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, severe, 601665
  • Congenital Obesity
  • obesity
Red Red List (low evidence)
AKR1C2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay
Red Red List (low evidence)
CEP19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Morbid obesity and spermatogenic failure, 615703
Red Red List (low evidence)
CEP290
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Red Red List (low evidence)
CPE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • obesity
Red Red List (low evidence)
GNAS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Red Red List (low evidence)
INPP5E
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
  • Joubert syndrome 1, 213300
Red Red List (low evidence)
KSR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • obesity
Red Red List (low evidence)
MAGEL2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Red Red List (low evidence)
MRAP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • obesity
  • {?Obesity, susceptibility to, BMIQ18}
  • Prader-Willi syndrome
Red Red List (low evidence)
NR0B2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, mild, early-onset, 601665
  • Congenital Obesity
Red Red List (low evidence)
NTRK2
3 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay, 613886
  • Congenital Obesity
Red Red List (low evidence)
PPARG
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Obesity, severe, 601665
  • [Obesity, resistance to]
  • Insulin resistance, severe, digenic, 604367
  • Lipodystrophy, familial partial, type 3, 604367
  • Carotid intimal medial thickness 1, 609338
  • {Diabetes, type 2}, 125853
Red Red List (low evidence)
TRIM32
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • ?Bardet-Biedl syndrome 11
  • 615988
Red Red List (low evidence)
TUB
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289)
Red Red List (low evidence)
WDPCP
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Congenital Obesity

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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