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Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants of this gene to 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 MOIU should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".; to: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants of this gene to obesity and this gene can be promoted to green rating at the next major update.

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 v4.7 ADCY3 Achchuthan Shanmugasundram Classified gene: ADCY3 as Amber List (moderate evidence)
Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants of this gene to 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 MOIU should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".
Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v4.6 ADCY3 Achchuthan Shanmugasundram Phenotypes for gene: ADCY3 were changed from Monogenic severe obesity to Monogenic severe obesity; {Obesity, susceptibility to, BMIQ19}, OMIM:617885
Severe early-onset obesity v4.5 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.

Autosomal recessive variants in this gene have been associated with phenotype in OMIM (MIM #617885). But, dominant variants have not yet been associated with relevant phenotypes in OMIM.
Severe early-onset obesity v4.5 ADCY3 Achchuthan Shanmugasundram edited their review of gene: ADCY3: Changed publications to: 29311636, 29311637, 35026759
Severe early-onset obesity v4.5 ADCY3 Achchuthan Shanmugasundram Publications for gene: ADCY3 were set to 2931163; 29311637; 35026759
Severe early-onset obesity v4.4 ADCY3 Achchuthan Shanmugasundram Publications for gene: ADCY3 were set to 29311637; 35026759
Severe early-onset obesity v4.3 ADCY3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ADCY3.
Severe early-onset obesity v4.3 ADCY3 Achchuthan Shanmugasundram edited their review of gene: ADCY3: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe early-onset obesity v4.3 ADCY3 Achchuthan Shanmugasundram reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2931163, 29311637, 35026759; Phenotypes: {Obesity, susceptibility to, BMIQ19}, OMIM:617885; Mode of inheritance: None
Severe early-onset obesity v4.3 DYRK1B Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: DYRK1B.
Tag Q2_23_NHS_review tag was added to gene: DYRK1B.
Severe early-onset obesity v4.3 DYRK1B Achchuthan Shanmugasundram Classified gene: DYRK1B as Amber List (moderate evidence)
Severe early-onset obesity v4.3 DYRK1B Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), there is sufficient evidence (>10 unrelated cases) available in support of promoting this gene to GREEN rating at the next major review.
Severe early-onset obesity v4.3 DYRK1B Achchuthan Shanmugasundram Gene: dyrk1b has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v4.2 DYRK1B Achchuthan Shanmugasundram Phenotypes for gene: DYRK1B were changed from obesity; diabetes to Abdominal obesity-metabolic syndrome 3, OMIM:615812
Severe early-onset obesity v4.1 DYRK1B Achchuthan Shanmugasundram reviewed gene: DYRK1B: Rating: ; Mode of pathogenicity: None; Publications: 34193236, 34786696; Phenotypes: Abdominal obesity-metabolic syndrome 3, OMIM:615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v4.1 DYRK1B Tracy Lester gene: DYRK1B was added
gene: DYRK1B was added to Severe early-onset obesity. Sources: NHS GMS
Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1B were set to 34193236; 34786696; 24827035
Phenotypes for gene: DYRK1B were set to obesity; diabetes
Penetrance for gene: DYRK1B were set to unknown
Review for gene: DYRK1B was set to GREEN
Added comment: This gene is green on the diabetes panel but there are cases in the literature who also have early-onset obesity
34193236: performed whole-exome sequencing in the probands from 2 of 3 multigenerational Iranian families with metabolic syndrome and early-onset coronary artery disease and identified a heterozygous missense mutation in the DYRK1B gene (R102C; 604556.0001) that segregated with disease in all 3 families.
34786696: report a splice variant in a 5yr old with severe ID, autism, obesity and seizures, inherited from affected father and also segregates in 2 affected sisters. RNA studies confimed aberrant splicing leading to LOF
24827035: patients with type 2 diabetes and obesity, identified 2 missense that co-segregated with full penetrance (R252H and K68Q). Age-dependent variable expressivity described with central obesity and insulin resistance apparent in childhood and morbid obesity, severe triglyceridemia and labile type 2 diabetes before age 40. Youngest aged 11.
Sources: NHS GMS
Severe early-onset obesity v4.1 Sarah Leigh Panel version 4.0 has been signed off on 2023-03-22
Severe early-onset obesity v4.0 Sarah Leigh promoted panel to version 4.0
Severe early-onset obesity v3.4 ADCY3 Dmitrijs Rots gene: ADCY3 was added
gene: ADCY3 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: ADCY3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADCY3 were set to 29311637; 35026759
Phenotypes for gene: ADCY3 were set to Monogenic severe obesity
Penetrance for gene: ADCY3 were set to unknown
Review for gene: ADCY3 was set to GREEN
Added comment: Multiple idependet cases reported with early onset severe obesity and LoF variants ir ADCY3.
Sources: Literature
Severe early-onset obesity v3.4 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Severe early-onset obesity v3.3 CPE Catherine Snow Tag Q3_21_rating was removed from gene: CPE.
Severe early-onset obesity v3.3 PGM2L1 Catherine Snow Tag Q3_21_rating was removed from gene: PGM2L1.
Tag gene-checked was removed from gene: PGM2L1.
Severe early-onset obesity v3.3 KIDINS220 Catherine Snow Tag Q4_21_rating was removed from gene: KIDINS220.
Severe early-onset obesity v3.3 PGM2L1 Catherine Snow commented on gene: PGM2L1
Severe early-onset obesity v3.3 KIDINS220 Catherine Snow commented on gene: KIDINS220
Severe early-onset obesity v3.3 CPE Catherine Snow commented on gene: CPE
Severe early-onset obesity v3.2 PGM2L1 Catherine Snow Source Expert Review Green was added to PGM2L1.
Source NHS GMS was added to PGM2L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v3.2 KIDINS220 Catherine Snow Source Expert Review Green was added to KIDINS220.
Source NHS GMS was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v3.2 CPE Catherine Snow Source Expert Review Green was added to CPE.
Source NHS GMS was added to CPE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30
Severe early-onset obesity v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Severe early-onset obesity v2.52 GNAS Sarah Leigh reviewed gene: GNAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe early-onset obesity v2.52 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912
Severe early-onset obesity v2.51 GNAS Sarah Leigh Tag Q4_22_MOI tag was added to gene: GNAS.
Severe early-onset obesity v2.51 PCSK1 Sarah Leigh Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362 to Obesity with impaired prohormone processing, OMIM:600955; obesity due to prohormone convertase I deficiency, MONDO:0010961; {Obesity, susceptibility to, BMIQ12},OMIM:612362
Severe early-onset obesity v2.50 PCSK1 Sarah Leigh Publications for gene: PCSK1 were set to
Severe early-onset obesity v2.49 PGM2L1 Arina Puzriakova Tag gene-checked tag was added to gene: PGM2L1.
Severe early-onset obesity v2.49 SIM1 Eleanor Williams Tag gene-checked tag was added to gene: SIM1.
Severe early-onset obesity v2.49 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Severe early-onset obesity v2.49 ISCA-37486-Loss Ivone Leong commented on Region: ISCA-37486-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.49 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.49 ISCA-37486-Loss Arina Puzriakova GRCh38 position for ISCA-37486-Loss was changed from 28811313-29035181 to 28811314-29035178.
Triplosensitivity Score for ISCA-37486-Loss was changed from None to .
Required Overlap Percentage for ISCA-37486-Loss was changed from 80 to 60.
Severe early-onset obesity v2.49 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Triplosensitivity Score for ISCA-37478-Loss was changed from None to .
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Severe early-onset obesity v2.49 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Triplosensitivity Score for ISCA-37404-Loss was changed from None to .
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Severe early-onset obesity v2.48 PHF6 Ivone Leong Tag Q4_21_MOI was removed from gene: PHF6.
Severe early-onset obesity v2.48 PHF6 Ivone Leong changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.48 PHIP Ivone Leong Tag Q3_21_rating was removed from gene: PHIP.
Tag Q3_21_NHS_review was removed from gene: PHIP.
Severe early-onset obesity v2.48 PHIP Ivone Leong commented on gene: PHIP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.48 PHF6 Ivone Leong commented on gene: PHF6: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.
Severe early-onset obesity v2.47 PHIP Ivone Leong Source Expert Review Green was added to PHIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v2.47 PHF6 Ivone Leong Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe early-onset obesity v2.46 PHF6 Ivone Leong Tag Q4_21_MOI tag was added to gene: PHF6.
Severe early-onset obesity v2.46 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe early-onset obesity v2.46 PHF6 Ivone Leong Publications for gene: PHF6 were set to
Severe early-onset obesity v2.45 KIDINS220 Arina Puzriakova Classified gene: KIDINS220 as Amber List (moderate evidence)
Severe early-onset obesity v2.45 KIDINS220 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Severe early-onset obesity v2.45 KIDINS220 Arina Puzriakova Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v2.44 KIDINS220 Arina Puzriakova gene: KIDINS220 was added
gene: KIDINS220 was added to Severe early-onset obesity. Sources: Literature
Q4_21_rating tags were added to gene: KIDINS220.
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 and, where indicated, this translates to a weight above the 99th percentile in infancy.
Sources: Literature
Severe early-onset obesity v2.43 CPE Arina Puzriakova Classified gene: CPE as Amber List (moderate evidence)
Severe early-onset obesity v2.43 CPE Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated families (5) reported in literature presenting a relevant phenotype associated with variants in this gene to rate as Green at the next GMS panel update.
Severe early-onset obesity v2.43 CPE Arina Puzriakova Gene: cpe has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v2.42 CPE Arina Puzriakova Publications for gene: CPE were set to 26120850; 15870393; 15358678
Severe early-onset obesity v2.41 CPE Arina Puzriakova Tag Q3_21_rating tag was added to gene: CPE.
Severe early-onset obesity v2.41 CPE Arina Puzriakova edited their review of gene: CPE: Added comment: Durmaz et al. 2021 (PMID: 32936766) identified the second family with 3 affected sibs with obesity, intellectual disability and hypogonadotropic hypogonadism, and a homozygous nonsense c.405C>A (p.Y135*) variant in CPE.

Bosch et al. 2021 (PMID: 34383079) reported on 4 individuals from 3 additional families harbouring 2 different homozygous truncating variants in this gene. Clinical presentation was prominent for obesity and intellectual disability. Hypogonadotropic hypogonadism was confirmed in one individual and was suspected but not tested for in another two subjects.; Changed rating: GREEN; Changed publications to: 26120850, 32936766, 34383079; Changed phenotypes to: Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v2.41 PGM2L1 Arina Puzriakova Entity copied from Intellectual disability v3.1218
Severe early-onset obesity v2.41 PGM2L1 Arina Puzriakova gene: PGM2L1 was added
gene: PGM2L1 was added to Severe early-onset obesity. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: PGM2L1.
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 v2.40 PHIP Ivone Leong Tag Q3_21_rating tag was added to gene: PHIP.
Severe early-onset obesity v2.40 PHIP Ivone Leong Classified gene: PHIP as Amber List (moderate evidence)
Severe early-onset obesity v2.40 PHIP Ivone Leong Added comment: Comment on list classification: New gene added by David Hunt (Wessex Clinical Genetics Service). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Severe early-onset obesity v2.40 PHIP Ivone Leong Gene: phip has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v2.39 PHIP Ivone Leong Tag Q3_21_NHS_review tag was added to gene: PHIP.
Severe early-onset obesity v2.39 PHIP David Hunt gene: PHIP was added
gene: PHIP was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 27900362; 29209020; 31167805; 32492392; 33867250
Phenotypes for gene: PHIP were set to Obesity; global developmental delay; intellectual disability; behavioral abnormality; dysmorphic facies
Penetrance for gene: PHIP were set to unknown
Review for gene: PHIP was set to GREEN
Added comment: Multiple peer-reviewed publications reporting a high rate of childhood-onset obesity in PHIP-related neurodevelopmental disorder (a.k.a. Chung-Jansen syndrome).
Sources: Literature
Severe early-onset obesity v2.39 CPE Arina Puzriakova Added comment: Comment on phenotypes: CPE is now associated with a relevant phenotype in OMIM - Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Severe early-onset obesity v2.39 CPE Arina Puzriakova Phenotypes for gene: CPE were changed from obesity to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Severe early-onset obesity v2.38 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1, OMIM:209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Severe early-onset obesity v2.37 TUB Ivone Leong Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v2.36 SH2B1 Ivone Leong Phenotypes for gene: SH2B1 were changed from obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency to obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Severe early-onset obesity v2.35 INPP5E Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300
Severe early-onset obesity v2.35 INPP5E Ivone Leong Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v2.34 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v2.33 VPS13B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhood
Severe early-onset obesity v2.33 VPS13B Ivone Leong Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, 216550; Cohen syndrome; Truncal obesity developing in mid-childhood to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v2.32 TTC8 Ivone Leong Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, 615985; Bardet-Biedl syndrome 8 to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v2.31 SIM1 Ivone Leong Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
Severe early-onset obesity v2.30 SIM1 Ivone Leong Added comment: Comment on publications: 25805767;24814368 (functional evidence);24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet;24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type;23778139 - case-control study, variable penetrance of the variants in extended family studies;23778136;16924270
Severe early-onset obesity v2.30 SIM1 Ivone Leong Publications for gene: SIM1 were set to 25805767; 24814368 (functional evidence); 24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet; 24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type; 23778139 - case-control study, variable penetrance of the variants in extended family studies; 23778136; 16924270
Severe early-onset obesity v2.29 SDCCAG8 Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16; Bardet-Biedl syndrome 16, 615993 to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v2.28 POMC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
{Obesity, early-onset, susceptibility to}, 601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734;Congenital Obesity;{Obesity, early-onset, susceptibility to}, 601665
Severe early-onset obesity v2.28 POMC Ivone Leong Phenotypes for gene: POMC were changed from {Obesity, early-onset, susceptibility to}, 601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; Congenital Obesity; {Obesity, early-onset, susceptibility to}, 601665 to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Severe early-onset obesity v2.27 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v2.26 PCSK1 Ivone Leong Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Added comment: Comment on publications: 16702999 functional studies;27884935;29100083;24950379 GWAS found signals close to this gene associated with birth weight;26727462 association with physical activity score;26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference;15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Publications for gene: NTRK2 were set to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.24 NTRK2 Ivone Leong Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v2.23 MYT1L Ivone Leong Added comment: Comment on publications: 26240977 - patient with normal weight at 4.5 years of age;
25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”;25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN);24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity;21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.23 MYT1L Ivone Leong Publications for gene: MYT1L were set to 26240977 - patient with normal weight at 4.5 years of age; 25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”; 25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN); 24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity; 21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.22 MYT1L Ivone Leong Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, 616521; intellectual disability to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v2.21 MKS1 Ivone Leong Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, 615990; Bardet-Biedl syndrome 13 to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v2.20 MKKS Ivone Leong Phenotypes for gene: MKKS were changed from Obesity; Bardet-Biedl syndrome 6; Bardet-Biedl syndrome 6, 605231 to Obesity; Bardet-Biedl syndrome 6, OMIM:605231
Severe early-onset obesity v2.19 MC4R Ivone Leong Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Severe early-onset obesity v2.18 LEPR Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency, 614963; Congenital Obesity to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v2.17 LEPR Ivone Leong Added comment: Comment on publications: 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders;
26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents;
25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island;
24611737 - uncertain heterozygous variant reported;24319006 - two homozygous cases reported (Pakistan);
23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.17 LEPR Ivone Leong Publications for gene: LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.16 LEP Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962; Congenital Obesity to Obesity, morbid, due to leptin deficiency, OMIM:614962
Severe early-onset obesity v2.15 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
Severe early-onset obesity v2.14 CEP19 Ivone Leong Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, 615703 to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v2.13 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Obesity; Bardet-Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9 to Obesity; Bardet-Biedl syndrome 9, OMIM:615986
Severe early-onset obesity v2.12 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, 615984; Bardet-Biedl syndrome 7 to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v2.11 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5 to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v2.10 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, 615982; Bardet-Biedl syndrome 4 to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v2.9 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2, 615981 to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v2.8 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12, 615989 to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v2.7 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 10, 615987 to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v2.6 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1, 209900 to Obesity; Bardet-Biedl syndrome 1, OMIM:209900
Severe early-onset obesity v2.5 ARL6 Ivone Leong Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3 to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
Severe early-onset obesity v2.3 Sarah Leigh Panel version has been signed off
Severe early-onset obesity v2.0 Ivone Leong promoted panel to version 2.0
Severe early-onset obesity v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Severe early-onset obesity v1.25 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Severe early-onset obesity v1.24 Ivone Leong List of related panels changed from Significant early-onset obesity with or without other endocrine features and short stature; Significant early-onset obesity +/- other endocrine features and short stature to Significant early-onset obesity with or without other endocrine features and short stature; Significant early-onset obesity +/- other endocrine features and short stature; R149
Severe early-onset obesity v1.23 KSR2 Ivone Leong Classified gene: KSR2 as Amber List (moderate evidence)
Severe early-onset obesity v1.23 KSR2 Ivone Leong Gene: ksr2 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.22 KSR2 Ivone Leong edited their review of gene: KSR2: Changed rating: AMBER
Severe early-onset obesity v1.22 KSR2 Ivone Leong changed review comment from: KSR2 is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 29273807 is a large study that combined data from approx. 720,000 individuals to find rare and low-frequency variants associated with BMI. A variant was found in KSR2. There was no details about this patient. Based on this data and the previous reviews, KSR2 has been left as a red gene until further cases/family case reports are available.; to: KSR2 is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 29273807 is a large study that combined data from approx. 720,000 individuals to find rare and low-frequency variants associated with BMI. A variant was found in KSR2. There was no details about this patient. Based on this data and the previous reviews, KSR2 has been left as a Amber gene until further cases/family case reports are available.
Severe early-onset obesity v1.22 ISCA-37486-Loss Ivone Leong reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Severe early-onset obesity v1.22 ISCA-37478-Loss Ivone Leong reviewed Region: ISCA-37478-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Severe early-onset obesity v1.22 ISCA-37404-Loss Ivone Leong reviewed Region: ISCA-37404-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Severe early-onset obesity v1.22 KSR2 Ivone Leong reviewed gene: KSR2: Rating: RED; Mode of pathogenicity: ; Publications: 29273807; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 SH2B1 Ivone Leong reviewed gene: SH2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28663568; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 TUB Ivone Leong reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v1.22 INPP5E Ivone Leong reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 19668215, 31173343; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 GNAS Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28453643, 27991864, 28663568; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 CPE Ivone Leong reviewed gene: CPE: Rating: AMBER; Mode of pathogenicity: ; Publications: 26120850; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 CEP290 Ivone Leong reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: 18327255, 23943788; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 SIM1 Ivone Leong reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 CEP19 Ivone Leong reviewed gene: CEP19: Rating: GREEN; Mode of pathogenicity: ; Publications: 29127258; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 NTRK2 Ivone Leong reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27884935, 29100083; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 WDPCP Ismaa Farooqi reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 TUB Ismaa Farooqi reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v1.22 TRIM32 Ismaa Farooqi reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 PPARG Ismaa Farooqi reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 NTRK2 Ismaa Farooqi reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 NR0B2 Ismaa Farooqi reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 MRAP2 Ismaa Farooqi reviewed gene: MRAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 MAGEL2 Ismaa Farooqi reviewed gene: MAGEL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 KSR2 Ismaa Farooqi reviewed gene: KSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 INPP5E Ismaa Farooqi reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 GNAS Ismaa Farooqi reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes
Severe early-onset obesity v1.22 CPE Ismaa Farooqi reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 CEP290 Ismaa Farooqi reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 CEP19 Ismaa Farooqi reviewed gene: CEP19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 AKR1C2 Ismaa Farooqi reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 SIM1 Ismaa Farooqi reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 SH2B1 Ismaa Farooqi reviewed gene: SH2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 VPS13B Ismaa Farooqi reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 TTC8 Ismaa Farooqi reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 SDCCAG8 Ismaa Farooqi reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 POMC Ismaa Farooqi reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 PHF6 Ismaa Farooqi reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 PCSK1 Ismaa Farooqi reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MYT1L Ismaa Farooqi reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MKS1 Ismaa Farooqi reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MKKS Ismaa Farooqi reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MC4R Ismaa Farooqi reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 LEPR Ismaa Farooqi reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 LEP Ismaa Farooqi reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS9 Ismaa Farooqi reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS7 Ismaa Farooqi reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS5 Ismaa Farooqi reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS4 Ismaa Farooqi reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS2 Ismaa Farooqi reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS12 Ismaa Farooqi reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS10 Ismaa Farooqi reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS1 Ismaa Farooqi reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 ARL6 Ismaa Farooqi reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 ALMS1 Ismaa Farooqi reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.21 WDPCP Ivone Leong Source Expert list was added to WDPCP.
Mode of inheritance for gene WDPCP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v1.21 TUB Ivone Leong Source Expert list was added to TUB.
Source Expert Review Amber was added to TUB.
Mode of inheritance for gene TUB was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 TRIM32 Ivone Leong Source Expert list was added to TRIM32.
Severe early-onset obesity v1.21 PPARG Ivone Leong Source Expert list was added to PPARG.
Severe early-onset obesity v1.21 NTRK2 Ivone Leong Source Expert Review Green was added to NTRK2.
Source Expert list was added to NTRK2.
Mode of inheritance for gene NTRK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene NTRK2 were changed from 26727462 association with physical activity score; 26629410 "female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference"; 24950379 GWAS found signals close to this gene associated with birth weight; 16702999 functional studies; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 NR0B2 Ivone Leong Source Expert list was added to NR0B2.
Severe early-onset obesity v1.21 MRAP2 Ivone Leong Source Expert list was added to MRAP2.
Severe early-onset obesity v1.21 MAGEL2 Ivone Leong Source Expert list was added to MAGEL2.
Severe early-onset obesity v1.21 KSR2 Ivone Leong Source Expert list was added to KSR2.
Publications for gene KSR2 were changed from 24209692 - Study sequenced the KSR2 gene in 1770 individuals of mixed European descent with severe, early-onset obesity (age of onset <10 years) recruited to the Genetics of Obesity Study. Compared to 1536 control individuals from a large UK population-based study ELY. They report an enrichment of loss-of-function variants in KSR2 in cases versus controls, however these did not consistently co-segregate with severe obesity and they state that other genetic and/or environmental factors may modulate the phenotype. Some variants found in severely obese individuals were found in controls, and in publicly available exome data, though the authors argue that some of the controls were overweight/obese and for publicly available databases the phenotypic information are not available in order to rule out obesity in these individuals; 18719666 - This screen identified a novel body-fat phenotypes in KSR2 Knockout mice; 27561547 - ksr2(-/-) mice are normal size at birth but show a marked increase in FGF21 accompanied by reduced body mass, shortened body length, and reduced bone mineral density (BMD) and content (BMC) first evident during postnatal development; 24997067 - Relative to wild-type mice, ksr2(-/-) mice are small prior to weaning with normal glucose tolerance at 6 weeks of age, but demonstrate excess adiposity by 9 weeks and glucose intolerance by 12-14 weeks...The phenotype of C57BL/6 ksr2(-/-) mice, including obesity and obesity-related dysregulation of glucose homeostasis, recapitulates that of humans with KSR2 mutations, demonstrating the applicability of the C57BL/6 ksr2(-/-) mouse model to the study of the pathogenesis of human disease to 29273807
Severe early-onset obesity v1.21 INPP5E Ivone Leong Source Expert list was added to INPP5E.
Source Expert Review Amber was added to INPP5E.
Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene INPP5E were changed from to 19668215; 31173343
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 GNAS Ivone Leong Source Expert Review Green was added to GNAS.
Source Expert list was added to GNAS.
Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene GNAS were changed from to 27991864; 28663568; 28453643
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 CPE Ivone Leong Source Expert Review Amber was added to CPE.
Publications for gene CPE were changed from 15358678; 15870393 to 26120850; 15870393; 15358678
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 CEP290 Ivone Leong Source Expert list was added to CEP290.
Source Expert Review Amber was added to CEP290.
Publications for gene CEP290 were changed from to 23943788; 18327255
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 CEP19 Ivone Leong Source Expert Review Green was added to CEP19.
Source Expert list was added to CEP19.
Publications for gene CEP19 were changed from 24268657 to 29127258; 24268657
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 AKR1C2 Ivone Leong Source Expert list was added to AKR1C2.
Severe early-onset obesity v1.21 SIM1 Ivone Leong Source Expert Review Green was added to SIM1.
Added phenotypes Obesity, severe, 601665; obesity; Congenital Obesity for gene: SIM1
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 SH2B1 Ivone Leong Publications for gene SH2B1 were changed from 26031769 - we performed a mutation screen for variants in the SH2B1 coding region in 581 obese children and adolescents and 433 healthy, lean individuals. Mutation analysis resulted in the identification of fifteen rare non-synonymous heterozygous variants. Several of these were found both in lean and obese subjects, suggesting that these are neutral polymorphisms. However, six private, heterozygous, non-synonymous variations were present in obese children only. Furthermore, we also identified six missense variants solely in lean individuals; 25955518 - GWAS studies have identified an association with adult BMI with a region with high linkage disequilibrium that includes five genes (SH2B1, APOBR, SULT1A1 and SULT1A2, TUFM). This study showed APOBR variants contribute as much as SH2B1 variants to the association; 26075635; 24971614 - "We describe the identification of 4 novel variants in SH2B1 that are present in individuals with obesity and insulin resistance. Some of the variants we found in severely obese individuals are also found in publicly available exomes...However, because BMI and additional phenotypic information for individuals in these datasets are not available, the precise contribution of these variants to obesity remains to be established...These findings suggest that SH2B1 contains a spectrum of common and rare alleles that contribute to BMI and obesity predisposition with a broad range of penetrance, from low to more highly penetrant rare alleles. One variant, A663V, was identified in 14 severely obese individuals in the GOOS cohort as well as in many publically available exomes. In cells, A663V affected the ability of SH2B1 to enhance cell motility in response to GH. Therefore, it is possible that this variant may contribute to the phenotype of variant carriers. These findings suggest that SH2B1 contains a spectrum of common and rare alleles that contribute to BMI and obesity predisposition with a broad range of penetrance, from low to more highly penetrant rare alleles. One variant, A663V, was identified in 14 severely obese individuals in the GOOS cohort as well as in many publically available exomes. In cells, A663V affected the ability of SH2B1 to enhance cell motility in response to GH. Therefore, it is possible that this variant may contribute to the phenotype of variant carriers."; 23160192 - "We identified 300 patients with severe early-onset obesity from the Genetics of Obesity Study (GOOS) cohort (11) with a disproportionate degree of insulin resistance for their obesity, as defined by the presence of acanthosis nigricans, development of type 2 diabetes in early adolescence, and/or markedly elevated plasma insulin (top decile for age, gender, and BMI). Mutations in the genes causing the known monogenic obesity syndromes had been excluded in these patients, as had deletions at 16p11.2 by multiplex ligation–dependent probe amplification (MLPA)." 5 unrelated probands of mixed European descent with heterozygous mutations in SH2B1 were reported to be absent from 500 control subjects. All mutations were inherited from overweight/obese parents, and carriers were hyperphagic and had reduced final height as adults. to 20808231; 24971614; 28663568; 23160192
Severe early-onset obesity v1.21 VPS13B Ivone Leong Source Expert list was added to VPS13B.
Added phenotypes Cohen syndrome, 216550 for gene: VPS13B
Severe early-onset obesity v1.21 TTC8 Ivone Leong Source Expert list was added to TTC8.
Added phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Severe early-onset obesity v1.21 SDCCAG8 Ivone Leong Source Expert list was added to SDCCAG8.
Added phenotypes Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Severe early-onset obesity v1.21 POMC Ivone Leong Source Expert list was added to POMC.
Added phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; {Obesity, early-onset, susceptibility to}, 601665 for gene: POMC
Severe early-onset obesity v1.21 PHF6 Ivone Leong Source Expert list was added to PHF6.
Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe early-onset obesity v1.21 PCSK1 Ivone Leong Source Expert list was added to PCSK1.
Added phenotypes Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 for gene: PCSK1
Severe early-onset obesity v1.21 MYT1L Ivone Leong Source Expert list was added to MYT1L.
Added phenotypes Mental retardation, autosomal dominant 39, 616521 for gene: MYT1L
Severe early-onset obesity v1.21 MKS1 Ivone Leong Source Expert list was added to MKS1.
Added phenotypes Bardet-Biedl syndrome 13, 615990 for gene: MKS1
Severe early-onset obesity v1.21 MKKS Ivone Leong Source Expert list was added to MKKS.
Added phenotypes Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Severe early-onset obesity v1.21 MC4R Ivone Leong Source Expert list was added to MC4R.
Added phenotypes Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306 for gene: MC4R
Severe early-onset obesity v1.21 LEPR Ivone Leong Source Expert list was added to LEPR.
Added phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 for gene: LEPR
Severe early-onset obesity v1.21 LEP Ivone Leong Source Expert list was added to LEP.
Added phenotypes Obesity, morbid, due to leptin deficiency, 614962 for gene: LEP
Severe early-onset obesity v1.21 BBS9 Ivone Leong Source Expert list was added to BBS9.
Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9
Severe early-onset obesity v1.21 BBS7 Ivone Leong Source Expert list was added to BBS7.
Added phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7
Severe early-onset obesity v1.21 BBS5 Ivone Leong Source Expert list was added to BBS5.
Added phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5
Severe early-onset obesity v1.21 BBS4 Ivone Leong Source Expert list was added to BBS4.
Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4
Severe early-onset obesity v1.21 BBS2 Ivone Leong Source Expert list was added to BBS2.
Added phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2
Severe early-onset obesity v1.21 BBS12 Ivone Leong Source Expert list was added to BBS12.
Added phenotypes Bardet-Biedl syndrome 12, 615989 for gene: BBS12
Severe early-onset obesity v1.21 BBS10 Ivone Leong Source Expert list was added to BBS10.
Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10
Severe early-onset obesity v1.21 BBS1 Ivone Leong Source Expert list was added to BBS1.
Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1
Severe early-onset obesity v1.21 ARL6 Ivone Leong Source Expert list was added to ARL6.
Added phenotypes Bardet-Biedl syndrome 3, 600151 for gene: ARL6
Severe early-onset obesity v1.21 ALMS1 Ivone Leong Source Expert list was added to ALMS1.
Added phenotypes Alstrom syndrome, 203800 for gene: ALMS1
Severe early-onset obesity v1.20 ISCA-37404-Loss Ivone Leong Triplosensitivity Score for ISCA-37404-Loss was changed from to None.
Source Expert list was added to Region: ISCA-37404-Loss.
Severe early-onset obesity v1.19 ISCA-37486-Loss Ivone Leong Triplosensitivity Score for ISCA-37486-Loss was changed from to None.
Source Expert list was added to Region: ISCA-37486-Loss.
Severe early-onset obesity v1.18 ISCA-37478-Loss Ivone Leong Triplosensitivity Score for ISCA-37478-Loss was changed from to None.
Source Expert list was added to Region: ISCA-37478-Loss.
Severe early-onset obesity v1.17 TUB Ivone Leong Phenotypes for gene: TUB were changed from Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289); ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, 616188
Severe early-onset obesity v1.16 TUB Ivone Leong Phenotypes for gene: TUB were changed from Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289) to Retinal dystrophy and obesity (Borman (2014) Hum Mutat 35,289); ?Retinal dystrophy and obesity, 616188
Severe early-onset obesity v1.15 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462
Severe early-onset obesity v1.14 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462
Severe early-onset obesity v1.13 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463
Severe early-onset obesity v1.12 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism, 612463
Severe early-onset obesity v1.11 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463
Severe early-onset obesity v1.10 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity to Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991
Severe early-onset obesity v1.9 CEP290 Ivone Leong Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v1.6 Ellen McDonagh Panel name changed from Significant early-onset obesity +/- other endocrine features and short stature to Severe early-onset obesity
List of related panels changed from Significant early-onset obesity with or without other endocrine features and short stature to Significant early-onset obesity with or without other endocrine features and short stature; Significant early-onset obesity +/- other endocrine features and short stature
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Severe early-onset obesity v1.5 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105835
Severe early-onset obesity v1.5 ISCA-37486-Loss Louise Daugherty Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231
Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity
Severe early-onset obesity v1.5 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as Green List (high evidence)
Severe early-onset obesity MYT1L Ellen McDonagh commented on gene: MYT1L
Severe early-onset obesity MYT1L alisdair mcneill commented on MYT1L
Severe early-onset obesity PHF6 Louise Daugherty commented on PHF6
Severe early-onset obesity Ellen McDonagh promoted panel to version 1
Severe early-onset obesity NTRK2 Ellen McDonagh classified NTRK2 as red
Severe early-onset obesity NTRK2 Ellen McDonagh commented on NTRK2
Severe early-onset obesity TRIM32 Ellen McDonagh marked TRIM32 as ready
Severe early-onset obesity TRIM32 Ellen McDonagh classified TRIM32 as red
Severe early-onset obesity TRIM32 Ellen McDonagh commented on TRIM32
Severe early-onset obesity CEP19 Ellen McDonagh commented on CEP19
Severe early-onset obesity CEP19 Ellen McDonagh classified CEP19 as red
Severe early-onset obesity MKKS Ellen McDonagh classified MKKS as green
Severe early-onset obesity MKKS Ellen McDonagh commented on MKKS
Severe early-onset obesity SIM1 Ellen McDonagh classified SIM1 as amber
Severe early-onset obesity SIM1 Ellen McDonagh commented on SIM1
Severe early-onset obesity SH2B1 Ellen McDonagh classified SH2B1 as amber
Severe early-onset obesity SH2B1 Ellen McDonagh classified SH2B1 as red
Severe early-onset obesity SH2B1 Ellen McDonagh commented on SH2B1
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as amber
Severe early-onset obesity MYT1L Ellen McDonagh commented on MYT1L
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as amber
Severe early-onset obesity MRAP2 Ellen McDonagh marked MRAP2 as ready
Severe early-onset obesity MRAP2 Ellen McDonagh marked MRAP2 as ready
Severe early-onset obesity MRAP2 Ellen McDonagh classified MRAP2 as red
Severe early-onset obesity MRAP2 Ellen McDonagh commented on MRAP2
Severe early-onset obesity KSR2 Ellen McDonagh classified KSR2 as red
Severe early-onset obesity KSR2 Ellen McDonagh commented on KSR2
Severe early-onset obesity CPE Ellen McDonagh marked CPE as ready
Severe early-onset obesity CPE Ellen McDonagh classified CPE as red
Severe early-onset obesity CPE Ellen McDonagh commented on CPE
Severe early-onset obesity WDPCP Ayesha Ahmed classified WDPCP as red
Severe early-onset obesity TUB Ayesha Ahmed marked TUB as ready
Severe early-onset obesity TUB Ayesha Ahmed classified TUB as red
Severe early-onset obesity CEP19 Ayesha Ahmed classified CEP19 as amber
Severe early-onset obesity PCSK1 Ayesha Ahmed classified PCSK1 as green
Severe early-onset obesity LEPR Ayesha Ahmed classified LEPR as green
Severe early-onset obesity WDPCP Ayesha Ahmed marked WDPCP as ready
Severe early-onset obesity WDPCP Ayesha Ahmed classified WDPCP as amber
Severe early-onset obesity WDPCP Ayesha Ahmed commented on WDPCP
Severe early-onset obesity VPS13B Ayesha Ahmed marked VPS13B as ready
Severe early-onset obesity VPS13B Ayesha Ahmed classified VPS13B as green
Severe early-onset obesity VPS13B Ayesha Ahmed commented on VPS13B
Severe early-onset obesity TUB Ayesha Ahmed classified TUB as amber
Severe early-onset obesity TUB Ayesha Ahmed commented on TUB
Severe early-onset obesity TTC8 Ayesha Ahmed marked TTC8 as ready
Severe early-onset obesity TTC8 Ayesha Ahmed classified TTC8 as green
Severe early-onset obesity TTC8 Ayesha Ahmed commented on TTC8
Severe early-onset obesity TRIM32 Ayesha Ahmed classified TRIM32 as amber
Severe early-onset obesity TRIM32 Ayesha Ahmed commented on TRIM32
Severe early-onset obesity SDCCAG8 Ayesha Ahmed marked SDCCAG8 as ready
Severe early-onset obesity SDCCAG8 Ayesha Ahmed classified SDCCAG8 as green
Severe early-onset obesity SDCCAG8 Ayesha Ahmed commented on SDCCAG8
Severe early-onset obesity PHF6 Ayesha Ahmed marked PHF6 as ready
Severe early-onset obesity PHF6 Ayesha Ahmed classified PHF6 as green
Severe early-onset obesity PHF6 Ayesha Ahmed commented on PHF6
Severe early-onset obesity MKS1 Ayesha Ahmed marked MKS1 as ready
Severe early-onset obesity MKS1 Ayesha Ahmed classified MKS1 as green
Severe early-onset obesity MKS1 Ayesha Ahmed commented on MKS1
Severe early-onset obesity CEP19 Ayesha Ahmed marked CEP19 as ready
Severe early-onset obesity CEP19 Ayesha Ahmed classified CEP19 as amber
Severe early-onset obesity CEP19 Ayesha Ahmed commented on CEP19
Severe early-onset obesity BBS9 Ayesha Ahmed marked BBS9 as ready
Severe early-onset obesity BBS9 Ayesha Ahmed classified BBS9 as green
Severe early-onset obesity BBS9 Ayesha Ahmed commented on BBS9
Severe early-onset obesity BBS7 Ayesha Ahmed marked BBS7 as ready
Severe early-onset obesity BBS7 Ayesha Ahmed classified BBS7 as green
Severe early-onset obesity BBS7 Ayesha Ahmed commented on BBS7
Severe early-onset obesity BBS5 Ayesha Ahmed marked BBS5 as ready
Severe early-onset obesity BBS5 Ayesha Ahmed classified BBS5 as green
Severe early-onset obesity BBS5 Ayesha Ahmed classified BBS5 as green
Severe early-onset obesity BBS5 Ayesha Ahmed commented on BBS5
Severe early-onset obesity BBS4 Ayesha Ahmed marked BBS4 as ready
Severe early-onset obesity BBS4 Ayesha Ahmed classified BBS4 as green
Severe early-onset obesity BBS4 Ayesha Ahmed classified BBS4 as green
Severe early-onset obesity BBS4 Ayesha Ahmed commented on BBS4
Severe early-onset obesity AKR1C2 Ayesha Ahmed classified AKR1C2 as red
Severe early-onset obesity AKR1C2 Ayesha Ahmed classified AKR1C2 as red
Severe early-onset obesity AKR1C2 Ayesha Ahmed commented on AKR1C2
Severe early-onset obesity AKR1C2 Ayesha Ahmed classified AKR1C2 as red
Severe early-onset obesity BBS2 Ayesha Ahmed marked BBS2 as ready
Severe early-onset obesity BBS2 Ayesha Ahmed classified BBS2 as green
Severe early-onset obesity BBS2 Ayesha Ahmed classified BBS2 as red
Severe early-onset obesity BBS2 Ayesha Ahmed commented on BBS2
Severe early-onset obesity BBS12 Ayesha Ahmed marked BBS12 as ready
Severe early-onset obesity BBS12 Ayesha Ahmed classified BBS12 as green
Severe early-onset obesity BBS12 Ayesha Ahmed commented on BBS12