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Severe early-onset obesity v1.13 MRAP2 Zornitza Stark Classified gene: MRAP2 as Amber List (moderate evidence)
Severe early-onset obesity v1.13 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.12 MRAP2 Zornitza Stark reviewed gene: MRAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31700171; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Marked gene: LRRC7 as ready
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Classified gene: LRRC7 as Green List (high evidence)
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.11 LRRC7 Zornitza Stark gene: LRRC7 was added
gene: LRRC7 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC7 were set to 39256359
Phenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092), LRRC7-related
Review for gene: LRRC7 was set to GREEN
Added comment: Over 30 individuals reported with a neurodevelopmental disorder and variants in this gene. Hyperphagia and early-onset obesity is a common feature.
Sources: Literature
Severe early-onset obesity v1.10 ACBD6 Zornitza Stark Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785
Severe early-onset obesity v1.9 ACBD6 Zornitza Stark reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v1.9 ADCY3 Achchuthan Shanmugasundram changed review comment from: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.

PMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.

PMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.; to: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.

PMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.

PMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.

The phenotypes of biallelic variants appear severe and early-onset. The age of patients with monoallelic variants ranged from 28 and 57 and its was not clear whether the patients had either monogenic or common form of obesity. Hence, the MOI should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".
Severe early-onset obesity v1.9 ADCY3 Achchuthan Shanmugasundram reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29311636, 29311637, 35026759; Phenotypes: {Obesity, susceptibility to, BMIQ19}, OMIM:617885; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe early-onset obesity v1.9 ACBD6 Zornitza Stark Marked gene: ACBD6 as ready
Severe early-onset obesity v1.9 ACBD6 Zornitza Stark Gene: acbd6 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.9 ACBD6 Zornitza Stark Classified gene: ACBD6 as Amber List (moderate evidence)
Severe early-onset obesity v1.9 ACBD6 Zornitza Stark Gene: acbd6 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.8 ACBD6 Lucy Spencer gene: ACBD6 was added
gene: ACBD6 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 36457943; 21937992; 35446914
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related
Review for gene: ACBD6 was set to AMBER
Added comment: PMID: 36457943
2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift.

This paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914
Sources: Literature
Severe early-onset obesity v1.8 HTR2C Zornitza Stark Marked gene: HTR2C as ready
Severe early-onset obesity v1.8 HTR2C Zornitza Stark Gene: htr2c has been classified as Green List (High Evidence).
Severe early-onset obesity v1.8 HTR2C Zornitza Stark Classified gene: HTR2C as Green List (high evidence)
Severe early-onset obesity v1.8 HTR2C Zornitza Stark Gene: htr2c has been classified as Green List (High Evidence).
Severe early-onset obesity v1.7 HTR2C Zornitza Stark gene: HTR2C was added
gene: HTR2C was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: HTR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HTR2C were set to 36536256
Phenotypes for gene: HTR2C were set to Obesity disorder, MONDO:0011122, HTR2C-related
Review for gene: HTR2C was set to GREEN
Added comment: Exome sequencing of 2,548 people with severe obesity and 1,117 control individuals without obesity identified 13 rare variants in the gene encoding 5-HT2CR (HTR2C) in 19 unrelated people (3 males and 16 females). Eleven variants caused a loss of function in HEK293 cells. All people who carried variants had hyperphagia and some degree of maladaptive behavior. Obesity was severe, childhood-onset.
Knock-in male mice harboring a human loss-of-function HTR2C variant developed obesity and reduced social exploratory behavior; female mice heterozygous for the same variant showed similar deficits with reduced severity.
Sources: Literature
Severe early-onset obesity v1.6 Zornitza Stark HPO terms changed from to Obesity, HP:0001513
List of related panels changed from to Obesity; HP:0001513
Severe early-onset obesity v1.5 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Marked gene: ADCY3 as ready
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.4 ADCY3 Zornitza Stark gene: ADCY3 was added
gene: ADCY3 was added to Severe early-onset obesity. Sources: Expert Review
Mode of inheritance for gene: ADCY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637
Phenotypes for gene: ADCY3 were set to {Obesity, susceptibility to, BMIQ19} MIM#617885
Review for gene: ADCY3 was set to AMBER
Added comment: PMID: 29311636 - founder canonical splice variant (c.2433-1G>A) in Greenlandic populations demonstrate higher risk of obesity, type 2 diabetes in homozygous individuals PMID: 29311637 - 4 unrelated families with severe early onset obesity, three with homozygous variants.
Sources: Expert Review
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Severe early-onset obesity v1.3 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.2 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Severe early-onset obesity. Sources: Expert Review
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIDINS220 were set to 27005418; 29667355; 33763417
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Review for gene: KIDINS220 was set to GREEN
Added comment: Seven individuals from five unrelated families have been reported with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome (OMIM:617296) associated with monoallelic variants in the KIDINS220 gene. Phenotypes include early-onset obesity.
Sources: Expert Review
Severe early-onset obesity v1.0 Zornitza Stark promoted panel to version 1.0
Severe early-onset obesity v0.94 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from Congenital Obesity to Bardet-Biedl syndrome 15, MIM# 615992
Severe early-onset obesity v0.92 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 26518167
Severe early-onset obesity v0.91 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from ?Bardet-Biedl syndrome 11; 615988 to Bardet-Biedl syndrome 11, MIM# 615988
Severe early-onset obesity v0.89 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Marked gene: MRAP2 as ready
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Phenotypes for gene: MRAP2 were changed from Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18} to Susceptibility to obesity, MIM#615457
Severe early-onset obesity v0.87 MRAP2 Zornitza Stark Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. "In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations." "We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991 to Bardet-Biedl syndrome 14, MIM# 615991
Severe early-onset obesity v0.85 CEP290 Zornitza Stark Classified gene: CEP290 as Green List (high evidence)
Severe early-onset obesity v0.85 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.84 PPARG Zornitza Stark Marked gene: PPARG as ready
Severe early-onset obesity v0.84 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.84 PPARG Zornitza Stark Phenotypes for gene: PPARG were changed from [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338 to Obesity, severe, MIM#601665
Severe early-onset obesity v0.83 PPARG Zornitza Stark Publications for gene: PPARG were set to
Severe early-onset obesity v0.82 PPARG Zornitza Stark Mode of inheritance for gene: PPARG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Marked gene: NR0B2 as ready
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Phenotypes for gene: NR0B2 were changed from Congenital Obesity; Obesity, mild, early-onset, 601665 to Obesity, mild, early-onset MIM#601665
Severe early-onset obesity v0.80 NR0B2 Zornitza Stark Publications for gene: NR0B2 were set to
Severe early-onset obesity v0.79 NR0B2 Zornitza Stark Mode of inheritance for gene: NR0B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from Congenital Obesity to Schaaf-Yang syndrome, MIM# 615547; Obesity
Severe early-onset obesity v0.77 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to
Severe early-onset obesity v0.76 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Severe early-onset obesity v0.75 MAGEL2 Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence)
Severe early-onset obesity v0.75 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.74 PPARG Daniel Flanagan reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9425261, 9753710; Phenotypes: Obesity, severe, MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11136233, 15459958; Phenotypes: Obesity, mild, early-onset MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 MRAP2 Daniel Flanagan reviewed gene: MRAP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan Deleted their review
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from Obesity, hyperphagia, and developmental delay to Obesity
Severe early-onset obesity v0.73 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Severe early-onset obesity v0.72 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from to Unknown
Severe early-onset obesity v0.71 MAGEL2 Daniel Flanagan reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30238631, 24076603, 27195816; Phenotypes: Obesity, Excessive weight gain; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Severe early-onset obesity v0.71 AKR1C2 Daniel Flanagan reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33675863, 25322899; Phenotypes: Obesity; Mode of inheritance: Unknown
Severe early-onset obesity v0.71 TUB Zornitza Stark Marked gene: TUB as ready
Severe early-onset obesity v0.71 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.71 TUB Zornitza Stark Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, OMIM:616188 to Retinal dystrophy and obesity, MIM# 616188
Severe early-onset obesity v0.70 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.70 Zornitza Stark removed gene:SH2B1 from the panel
Severe early-onset obesity v0.69 PHIP Zornitza Stark Marked gene: PHIP as ready
Severe early-onset obesity v0.69 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Severe early-onset obesity v0.69 PHIP Zornitza Stark Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991
Severe early-onset obesity v0.68 PHIP Zornitza Stark Classified gene: PHIP as Green List (high evidence)
Severe early-onset obesity v0.68 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Severe early-onset obesity v0.67 PGM2L1 Zornitza Stark Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder; obesity
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Marked gene: PGM2L1 as ready
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Classified gene: PGM2L1 as Green List (high evidence)
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Marked gene: KSR2 as ready
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Mode of inheritance for gene: KSR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other
Severe early-onset obesity v0.64 KSR2 Zornitza Stark Classified gene: KSR2 as Red List (low evidence)
Severe early-onset obesity v0.64 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.63 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Severe early-onset obesity v0.63 INPP5E Zornitza Stark Gene: inpp5e has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.63 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.63 CPE Zornitza Stark Phenotypes for gene: CPE were changed from BDV syndrome, MIM# 619326 to BDV syndrome, MIM# 619326; Intellectual developmental disorder and hypogonadotropic hypogonadism
Severe early-onset obesity v0.62 CPE Zornitza Stark Marked gene: CPE as ready
Severe early-onset obesity v0.62 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Severe early-onset obesity v0.62 CPE Zornitza Stark Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 to BDV syndrome, MIM# 619326
Severe early-onset obesity v0.61 CPE Zornitza Stark Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Severe early-onset obesity v0.60 CPE Zornitza Stark Classified gene: CPE as Green List (high evidence)
Severe early-onset obesity v0.60 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Severe early-onset obesity v0.59 TUB Belinda Chong reviewed gene: TUB: Rating: RED; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: ?Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 SH2B1 Belinda Chong reviewed gene: SH2B1: Rating: RED; Mode of pathogenicity: None; Publications: 19079260, 32251290, 33214137; Phenotypes: Chromosome 16p11.2 deletion syndrome, 220kb 613444; Mode of inheritance: None
Severe early-onset obesity v0.59 PHIP Belinda Chong reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29209020, 27900362, 23033978; Phenotypes: Chung-Jansen syndrome 617991; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.59 PGM2L1 Belinda Chong reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33979636; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 KSR2 Belinda Chong reviewed gene: KSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24209692, 29273807, 28180061, 24997067; Phenotypes: Obesity; Mode of inheritance: None
Severe early-onset obesity v0.59 INPP5E Belinda Chong reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 CPE Belinda Chong reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 26120850, 32936766, 34383079; Phenotypes: BDV syndrome 619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Severe early-onset obesity v0.58 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Expert list
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Classified gene: LZTFL1 as Green List (high evidence)
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.56 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)
Review for gene: LZTFL1 was set to GREEN
Added comment: 3 variants reported in 2 unrelated families, with supporting functional studies. Borderline amber/green

PMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad

PMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.

PMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.

PMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking
Sources: Expert list
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.54 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 32144365
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to GREEN
Added comment: Two families and a zebrafish model.
Sources: Expert list
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.52 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Literature
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Classified gene: IFT172 as Green List (high evidence)
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.50 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 30761183; 26763875; 25168386
Phenotypes for gene: IFT172 were set to Bardet-Biedl syndrome 20, MIM# 619471
Review for gene: IFT172 was set to GREEN
Added comment: Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well.
Sources: Expert list
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.48 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007
Phenotypes for gene: CEP164 were set to Bardet-Biedl syndrome
Review for gene: CEP164 was set to GREEN
Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.46 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well. Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.44 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.

Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, OMIM:216550 to Cohen syndrome MIM#216550
Severe early-onset obesity v0.42 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, OMIM:615985 to Bardet-Biedl syndrome 8, MIM# 615985
Severe early-onset obesity v0.40 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Marked gene: SIM1 as ready
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Gene: sim1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Phenotypes for gene: SIM1 were changed from obesity; Congenital Obesity to congenital obesity; Prader-Willi-like syndrome
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16, OMIM:615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444
Severe early-onset obesity v0.37 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Severe early-onset obesity v0.36 POMC Zornitza Stark Marked gene: POMC as ready
Severe early-onset obesity v0.36 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Severe early-onset obesity v0.36 POMC Zornitza Stark Publications for gene: POMC were set to
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362 to Obesity with impaired prohormone processing MIM#600955
Severe early-onset obesity v0.33 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Severe early-onset obesity v0.32 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Severe early-onset obesity v0.32 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, OMIM:616521 to Mental retardation, autosomal dominant 39, MIM# 616521; Obesity
Severe early-onset obesity v0.31 MYT1L Zornitza Stark Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, OMIM:615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Severe early-onset obesity v0.29 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Severe early-onset obesity v0.28 MKKS Zornitza Stark Marked gene: MKKS as ready
Severe early-onset obesity v0.28 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Severe early-onset obesity v0.28 MKKS Zornitza Stark Publications for gene: MKKS were set to
Severe early-onset obesity v0.27 MC4R Zornitza Stark Marked gene: MC4R as ready
Severe early-onset obesity v0.27 MC4R Zornitza Stark Gene: mc4r has been classified as Green List (High Evidence).
Severe early-onset obesity v0.27 MC4R Zornitza Stark Phenotypes for gene: MC4R were changed from Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306 to Obesity (BMIQ20) MIM#618406
Severe early-onset obesity v0.26 MC4R Zornitza Stark Publications for gene: MC4R were set to
Severe early-onset obesity v0.25 LEPR Zornitza Stark Marked gene: LEPR as ready
Severe early-onset obesity v0.25 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Severe early-onset obesity v0.25 LEPR Zornitza Stark Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581
Severe early-onset obesity v0.24 LEPR Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.24 LEP Zornitza Stark Marked gene: LEP as ready
Severe early-onset obesity v0.24 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Severe early-onset obesity v0.24 LEP Zornitza Stark Publications for gene: LEP were set to
Severe early-onset obesity v0.23 LEP Zornitza Stark reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9202122, 12393845, 15472169, 25551525, 7984236; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM# 614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.23 GNAS Zornitza Stark Marked gene: GNAS as ready
Severe early-onset obesity v0.23 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Severe early-onset obesity v0.23 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233 to Pseudohypoparathyroidism Ia, MIM# 103580; Pseudohypoparathyroidism Ic, MIM# 612462; Pseudopseudohypoparathyroidism, MIM# 612463
Severe early-onset obesity v0.22 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580, Pseudohypoparathyroidism Ic, MIM# 612462, Pseudopseudohypoparathyroidism, MIM# 612463; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Severe early-onset obesity v0.22 MC4R Ain Roesley reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 12646665, 34238466, 32805220; Phenotypes: Obesity (BMIQ20) MIM#618406; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe early-onset obesity v0.22 MYT1L Ain Roesley reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 33622623; Phenotypes: Intellectual disability and obesity (MIM#616521); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 NTRK2 Ain Roesley reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15494731, 27884935, 29100083; Phenotypes: Obesity, hyperphagia, and developmental delay MIM#613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 PCSK1 Ain Roesley reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.22 PHF6 Ain Roesley reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32399860; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe early-onset obesity v0.22 POMC Ain Roesley reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.22 SIM1 Ain Roesley reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434169, 30926952, 23778136, 23778139; Phenotypes: congenital obesity, Prader-Willi-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 VPS13B Ain Roesley reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30473963; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, OMIM:615703 to Morbid obesity and spermatogenic failure, OMIM:615703; Bardet Biedl syndrome
Severe early-onset obesity v0.21 CEP19 Zornitza Stark Classified gene: CEP19 as Amber List (moderate evidence)
Severe early-onset obesity v0.21 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.20 CEP19 Zornitza Stark reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Morbid obesity and spermatogenic failure, MIM# 615703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, OMIM:615986; Obesity to Bardet-Biedl syndrome 9, MIM#615986
Severe early-onset obesity v0.19 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, OMIM:615984 to Bardet-Biedl syndrome 7, MIM# 615984
Severe early-onset obesity v0.17 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, OMIM:615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Severe early-onset obesity v0.15 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, OMIM:615982 to Bardet-Biedl syndrome 4, MIM#615982
Severe early-onset obesity v0.13 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2, OMIM:615981 to Bardet-Biedl syndrome 2, MIM# 615981
Severe early-onset obesity v0.11 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12, OMIM:615989 to Bardet-Biedl syndrome 12, MIM# 615989
Severe early-onset obesity v0.9 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10, OMIM:615987 to Bardet-Biedl syndrome 10, MIM# 615987
Severe early-onset obesity v0.7 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 to Bardet-Biedl syndrome 1 OMIM:209900; MONDO:0008854
Severe early-onset obesity v0.5 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, OMIM:600151 to Bardet-Biedl syndrome 3, MIM# 600151
Severe early-onset obesity v0.3 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Severe early-onset obesity v0.2 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data. Obesity is a feature.
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Clinical features include: retinitis pigmentosa, deafness, obesity, and diabetes mellitus.
Severe early-onset obesity v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: WDPCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDPCP were set to 26518167
Phenotypes for gene: WDPCP were set to Congenital Obesity
Severe early-onset obesity v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11; 615988
Severe early-onset obesity v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338
Severe early-onset obesity v0.0 NR0B2 Zornitza Stark gene: NR0B2 was added
gene: NR0B2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NR0B2 was set to
Phenotypes for gene: NR0B2 were set to Congenital Obesity; Obesity, mild, early-onset, 601665
Severe early-onset obesity v0.0 MRAP2 Zornitza Stark gene: MRAP2 was added
gene: MRAP2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MRAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. "In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations." "We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)
Phenotypes for gene: MRAP2 were set to Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18}
Severe early-onset obesity v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MAGEL2 was set to
Phenotypes for gene: MAGEL2 were set to Congenital Obesity
Severe early-onset obesity v0.0 AKR1C2 Zornitza Stark gene: AKR1C2 was added
gene: AKR1C2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: AKR1C2 was set to
Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Severe early-onset obesity v0.0 TUB Zornitza Stark gene: TUB was added
gene: TUB was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUB were set to 16443771; 22618246; 24375934; 18619628; 12076089; 16643894; 8612280; 10629044; 19885003; 10196693; 22492381; 17955208 (candidate for late-onset obesity); 18183286
Phenotypes for gene: TUB were set to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v0.0 SH2B1 Zornitza Stark gene: SH2B1 was added
gene: SH2B1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH2B1 were set to 24971614; 28663568; 23160192; 20808231
Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994; obesity
Severe early-onset obesity v0.0 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 27900362; 31167805; 32492392; 29209020; 33867250
Phenotypes for gene: PHIP were set to dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability
Severe early-onset obesity v0.0 PGM2L1 Zornitza Stark gene: PGM2L1 was added
gene: PGM2L1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder
Severe early-onset obesity v0.0 KSR2 Zornitza Stark gene: KSR2 was added
gene: KSR2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: KSR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KSR2 were set to 29273807
Phenotypes for gene: KSR2 were set to obesity
Severe early-onset obesity v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 31173343; 19668215
Phenotypes for gene: INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v0.0 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Severe early-onset obesity v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to 18327255; 23943788
Phenotypes for gene: CEP290 were set to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v0.0 SIM1 Zornitza Stark gene: SIM1 was added
gene: SIM1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIM1 were set to 24097297; 25805767; 24260538; 23778136; 16924270; 23778139; 24814368
Phenotypes for gene: SIM1 were set to obesity; Congenital Obesity
Severe early-onset obesity v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Severe early-onset obesity v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v0.0 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 27884935; 29100083; 24950379; 16702999; 26629410; 26727462; 15494731
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v0.0 MYT1L Zornitza Stark gene: MYT1L was added
gene: MYT1L was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Phenotypes for gene: MYT1L were set to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, OMIM:605231; Obesity
Severe early-onset obesity v0.0 MC4R Zornitza Stark gene: MC4R was added
gene: MC4R was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MC4R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MC4R were set to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Severe early-onset obesity v0.0 LEPR Zornitza Stark gene: LEPR was added
gene: LEPR was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, OMIM:614962
Severe early-onset obesity v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 28663568; 28453643; 27991864
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233
Severe early-onset obesity v0.0 CEP19 Zornitza Stark gene: CEP19 was added
gene: CEP19 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 24268657; 29127258
Phenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, OMIM:615986; Obesity
Severe early-onset obesity v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Severe early-onset obesity v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Severe early-onset obesity v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, OMIM:203800
Severe early-onset obesity v0.0 Zornitza Stark Added panel Severe early-onset obesity