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'.

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.

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
Panel Activity

15 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • stephen o'rahilly (university of cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • David Hunt (Wessex Clinical Genetics Service)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Ismaa Farooqi (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

47 Entities

47 reviewed, 33 green

List Entity Reviews Mode of inheritance Details
47 Entitiess
Green Green List (high evidence)
ALMS1
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Alstrom syndrome, OMIM:203800
Tags
Green Green List (high evidence)
ARL6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 3, OMIM:600151
Tags
Green Green List (high evidence)
BBS1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • obesity
  • Bardet-Biedl syndrome 10, OMIM:615987
Tags
Green Green List (high evidence)
BBS12
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • obesity
  • Bardet-Biedl syndrome 12, OMIM:615989
Tags
Green Green List (high evidence)
BBS2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 2, OMIM:615981
Tags
Green Green List (high evidence)
BBS4
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 4, OMIM:615982
Tags
Green Green List (high evidence)
BBS5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 5, OMIM:615983
Tags
Green Green List (high evidence)
BBS7
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 7, OMIM:615984
Tags
Green Green List (high evidence)
BBS9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 9, OMIM:615986
Tags
Green Green List (high evidence)
CEP19
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Morbid obesity and spermatogenic failure, OMIM:615703
Tags
Green Green List (high evidence)
CPE
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Tags
Green Green List (high evidence)
GNAS
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudohypoparathyroidism Ia, OMIM:103580
  • pseudohypoparathyroidism type 1A, MONDO:0007078
  • Pseudohypoparathyroidism Ic, OMIM:612462
  • pseudohypoparathyroidism type 1C, MONDO:0012911
  • Pseudopseudohypoparathyroidism, OMIM:612463
  • pseudopseudohypoparathyroidism, MONDO:0012912
Tags
  • Q4_22_MOI
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert list
  • 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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert list
  • 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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert list
  • Expert Review Green
Phenotypes
  • developmental delay
  • 613444
  • obesity
Tags
Green Green List (high evidence)
KIDINS220
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Tags
Green Green List (high evidence)
LEP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin deficiency, OMIM:614962
Tags
Green Green List (high evidence)
LEPR
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Tags
Green Green List (high evidence)
MC4R
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity (BMIQ20), OMIM:618406
  • {Obesity, resistence to (BMIQ20)}, OMIM:618306
Tags
Green Green List (high evidence)
MKKS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 6, OMIM:605231
Tags
Green Green List (high evidence)
MKS1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 13, OMIM:615990
Tags
Green Green List (high evidence)
MYT1L
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • obesity
  • Mental retardation, autosomal dominant 39, OMIM:616521
Tags
Green Green List (high evidence)
NTRK2
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay, OMIM:613886
Tags
Green Green List (high evidence)
PCSK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity with impaired prohormone processing, OMIM:600955
  • obesity due to prohormone convertase I deficiency, MONDO:0010961
  • {Obesity, susceptibility to, BMIQ12},OMIM:612362
Tags
Green Green List (high evidence)
PGM2L1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Tags
Green Green List (high evidence)
PHF6
5 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Tags
Green Green List (high evidence)
PHIP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Obesity
  • global developmental delay
  • intellectual disability
  • behavioral abnormality
  • dysmorphic facies
Tags
Green Green List (high evidence)
POMC
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Obesity, early-onset, susceptibility to}, OMIM:601665
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Tags
Green Green List (high evidence)
SDCCAG8
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 16, OMIM:615993
Tags
Green Green List (high evidence)
SIM1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • obesity
  • Congenital Obesity
Tags
  • gene-checked
Green Green List (high evidence)
TTC8
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 8, OMIM:615985
Tags
Green Green List (high evidence)
VPS13B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity
  • Cohen syndrome, OMIM:216550
Tags
Amber Amber List (moderate evidence)
ADCY3
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Monogenic severe obesity
  • {Obesity, susceptibility to, BMIQ19}, OMIM:617885
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
CEP290
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital Obesity
  • ?Bardet-Biedl syndrome 14, OMIM:615991
Tags
Amber Amber List (moderate evidence)
DYRK1B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Abdominal obesity-metabolic syndrome 3, OMIM:615812
Tags
  • Q2_23_NHS_review
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
INPP5E
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Tags
Amber Amber List (moderate evidence)
KSR2
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Amber
Phenotypes
  • obesity
Tags
Amber Amber List (moderate evidence)
SH2B1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • obesity
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Tags
Amber Amber List (moderate evidence)
TUB
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Retinal dystrophy and obesity, OMIM:616188
Tags
Red Red List (low evidence)
AKR1C2
3 reviews
2 red 		Not set
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay
Tags
Red Red List (low evidence)
MAGEL2
1 review
1 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital Obesity
Tags
Red Red List (low evidence)
MRAP2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Red
Phenotypes
  • obesity
  • {?Obesity, susceptibility to, BMIQ18}
  • Prader-Willi syndrome
Tags
Red Red List (low evidence)
NR0B2
3 reviews
2 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, mild, early-onset, 601665
  • Congenital Obesity
Tags
Red Red List (low evidence)
PPARG
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • 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
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
Phenotypes
  • ?Bardet-Biedl syndrome 11
  • 615988
Tags
Red Red List (low evidence)
WDPCP
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
Phenotypes
  • Congenital Obesity
Tags

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