PanelApp (test)
  1. Panels
  2. Severe early-onset obesity
Description
This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).

If other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.
Panel Activity

8 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

52 Entities

52 reviewed, 38 green

List Entity Reviews Mode of inheritance Details
52 Entitiess
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Alstrom syndrome, OMIM:203800
Tags
Green Green List (high evidence)
ARL6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
BBS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, MIM# 615987
Tags
Green Green List (high evidence)
BBS12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, MIM# 615989
Tags
Green Green List (high evidence)
BBS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Green Green List (high evidence)
BBS4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
Tags
Green Green List (high evidence)
BBS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
  • MONDO:0014434
Tags
Green Green List (high evidence)
BBS7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
Tags
Green Green List (high evidence)
BBS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 14, MIM# 615991
Tags
Green Green List (high evidence)
CPE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • BDV syndrome, MIM# 619326
  • Intellectual developmental disorder and hypogonadotropic hypogonadism
Tags
Green Green List (high evidence)
GNAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pseudohypoparathyroidism Ia, MIM# 103580
  • Pseudohypoparathyroidism Ic, MIM# 612462
  • Pseudopseudohypoparathyroidism, MIM# 612463
Tags
Green Green List (high evidence)
HTR2C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Obesity disorder, MONDO:0011122, HTR2C-related
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 619471
Tags
Green Green List (high evidence)
IFT27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
Tags
Green Green List (high evidence)
IFT74
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119
Tags
Green Green List (high evidence)
KIDINS220
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Tags
Green Green List (high evidence)
LEP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity, morbid, due to leptin deficiency, OMIM:614962
Tags
Green Green List (high evidence)
LEPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
LZTFL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 17 (MIM#615994)
Tags
Green Green List (high evidence)
MAGEL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Schaaf-Yang syndrome, MIM# 615547
  • 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
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity (BMIQ20) MIM#618406
Tags
Green Green List (high evidence)
MKKS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bardet-Biedl syndrome 6, OMIM:605231
  • Obesity
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 13, MIM# 615990
  • MONDO:0014441
Tags
Green Green List (high evidence)
MYT1L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, autosomal dominant 39, MIM# 616521
  • Obesity
Tags
  • SV/CNV
Green Green List (high evidence)
NTRK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity, hyperphagia, and developmental delay, OMIM:613886
Tags
Green Green List (high evidence)
PCSK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity with impaired prohormone processing MIM#600955
Tags
Green Green List (high evidence)
PGM2L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neurodevelopmental disorder
  • obesity
Tags
Green Green List (high evidence)
PHF6
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Tags
Green Green List (high evidence)
PHIP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Chung-Jansen syndrome 617991
Tags
Green Green List (high evidence)
POMC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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)
SCAPER
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
Tags
Green Green List (high evidence)
SIM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • congenital obesity
  • Prader-Willi-like syndrome
Tags
Green Green List (high evidence)
TTC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985
Tags
Green Green List (high evidence)
VPS13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cohen syndrome MIM#216550
Tags
Amber Amber List (moderate evidence)
ACBD6
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785
Tags
Amber Amber List (moderate evidence)
ADCY3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • {Obesity, susceptibility to, BMIQ19} MIM#617885
Tags
Amber Amber List (moderate evidence)
BBIP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
Tags
Amber Amber List (moderate evidence)
C8orf37
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Bardet-Biedl syndrome 21, MIM#617406
Tags
Amber Amber List (moderate evidence)
CEP19
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Morbid obesity and spermatogenic failure, OMIM:615703
  • Bardet Biedl syndrome
Tags
Amber Amber List (moderate evidence)
INPP5E
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Tags
Amber Amber List (moderate evidence)
TUB
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Retinal dystrophy and obesity, MIM# 616188
Tags
Red Red List (low evidence)
AKR1C2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity
Tags
Red Red List (low evidence)
KSR2
1 review
1 red 		Other
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • obesity
Tags
Red Red List (low evidence)
MRAP2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Susceptibility to obesity, MIM#615457
Tags
Red Red List (low evidence)
NR0B2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity, mild, early-onset MIM#601665
Tags
Red Red List (low evidence)
PPARG
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity, severe, MIM#601665
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red Red List (low evidence)
WDPCP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
Tags

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