Description
This panel is used for clinical indication 'R149 Severe early-onset obesity', 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 'R149 Severe early-onset obesity'.

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

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

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

42 Entities

35 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
42 Entitiess
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105835
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
Tags
Green Green List (high evidence)
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
ISCA-37486-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • developmental delay
  • 613444
  • obesity
Tags
Green Green List (high evidence)
ALMS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Alstrom syndrome associated with obesity
  • Truncal obesity (onset in childhood)
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 3
Tags
Green Green List (high evidence)
BBS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 1
Tags
Green Green List (high evidence)
BBS10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 10
  • obesity
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 12
  • obesity
Tags
Green Green List (high evidence)
BBS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 2
Tags
Green Green List (high evidence)
BBS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 4
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 5
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 7
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 9
Tags
Green Green List (high evidence)
LEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin deficiency, 614962
  • Congenital Obesity
Tags
Green Green List (high evidence)
LEPR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, 614963
  • Congenital Obesity
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, autosomal dominant, 601665
  • Congenital Obesity
Tags
Green Green List (high evidence)
MKKS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 6
Tags
Green Green List (high evidence)
MKS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 13
Tags
Green Green List (high evidence)
MYT1L
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • obesity
  • intellectual disability
Tags
Green Green List (high evidence)
PCSK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity with impaired prohormone processing, 600955
  • {Obesity, susceptibility to, BMIQ12}, 612362
  • Congenital Obesity
Tags
Green Green List (high evidence)
PHF6
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Borjeson-Forssman-Lehmann syndrome
Tags
Green Green List (high evidence)
POMC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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
Tags
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
Tags
Green Green List (high evidence)
TTC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 8
Tags
Green Green List (high evidence)
VPS13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Obesity
  • Cohen syndrome
  • Truncal obesity developing in mid-childhood
Tags
Amber Amber List (moderate evidence)
SH2B1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • obesity
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Tags
Amber Amber List (moderate evidence)
SIM1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, severe, 601665
  • Congenital Obesity
  • obesity
Tags
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
Tags
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
Tags
Red Red List (low evidence)
CEP290
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Tags
Red Red List (low evidence)
CPE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • obesity
Tags
Red Red List (low evidence)
GNAS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Tags
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
Tags
Red Red List (low evidence)
KSR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • obesity
Tags
Red Red List (low evidence)
MAGEL2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
Tags
Red Red List (low evidence)
MRAP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • obesity
  • {?Obesity, susceptibility to, BMIQ18}
  • Prader-Willi syndrome
Tags
Red Red List (low evidence)
NR0B2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, mild, early-onset, 601665
  • Congenital Obesity
Tags
Red Red List (low evidence)
NTRK2
3 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay, 613886
  • Congenital Obesity
Tags
Red Red List (low evidence)
PPARG
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
Tags
Red Red List (low evidence)
TRIM32
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • ?Bardet-Biedl syndrome 11
  • 615988
Tags
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)
Tags
Red Red List (low evidence)
WDPCP
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Congenital Obesity
Tags

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