Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.20 | STX16 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.20 | STX16 | Eleanor Williams reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.19 | STX16 |
Eleanor Williams Source Expert Review Green was added to STX16. Source NHS GMS was added to STX16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.18 | STX16 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: STX16 is not clearly an imprinted gene. As reported in publications, only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.18 | STX16 | Achchuthan Shanmugasundram Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.17 | STX16 | Achchuthan Shanmugasundram edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.17 | STX16 | Achchuthan Shanmugasundram Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.16 | STX16 | Achchuthan Shanmugasundram edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.16 | STX16 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.16 | STX16 |
Achchuthan Shanmugasundram changed review comment from: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion. PMID:28453643 reported five patients reported with obesity with onset ranging from 3-12 months of age. Deletion of STX16 gene (either 3-kb or 4.4-kb) was reported in these cases confirming genetic diagnosis of Pseudohypoparathyroidism, type IB. All these patients inherited STX16 deletions from their unaffected mothers, and these deletions reside on paternal allele of these mothers. This indicates that maternally inherited deletions are associated with the phenotype. Excessive weight gain preceded other clinical or laboratory signs of PHP1B by more than a decade in some patients. One of these patients had symptomatic hypocalcemia and elevated PTH levels when admitted to hospital at 11.5 years, and another was reported with asymptomatic hypocalcemia and an elevated PTH level only after establishing the genetic defect. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf) the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years and in the absence of significant features. All the cases reported above had early onset obesity before the age of 5 and appears severe. However, the patient from PMID:27338644 had other presentations such as macrosomia and macrocephaly suggesting the phenotype is syndromic. Although some of the cases reported in PMID:28453643 had hypocalcemia and an elevated PTH level, their onset was much later than that of obesity. Hence, it is useful to include this gene on this panel to get diagnosis for patients early in their life and before the onset of PHP1B. Clinical opinion is therefore sought in relation to promoting this gene to green rating on this panel.; to: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion. PMID:28453643 reported five patients reported with obesity with onset ranging from 3-12 months of age. Deletion of STX16 gene (either 3-kb or 4.4-kb) was reported in these cases confirming genetic diagnosis of Pseudohypoparathyroidism, type IB. All these patients inherited STX16 deletions from their unaffected mothers, and these deletions reside on paternal allele of these mothers. This indicates that maternally inherited deletions are associated with the phenotype. Excessive weight gain preceded other clinical or laboratory signs of PHP1B by more than a decade in some patients. One of these patients had symptomatic hypocalcemia and elevated PTH levels when admitted to hospital at 11.5 years, and another was reported with asymptomatic hypocalcemia and an elevated PTH level only after establishing the genetic defect. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf) the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years and in the absence of significant features. All the cases reported above had early onset obesity before the age of 5 and appears severe. However, the patient from PMID:27338644 had other presentations such as macrosomia and macrocephaly suggesting the phenotype is syndromic. Although some of the cases reported in PMID:28453643 had hypocalcemia and an elevated PTH level, their onset was much later than that of obesity. Hence, it is useful to include this gene on this panel to get diagnosis for patients early in their life and before the onset of PHP1B. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.16 | STX16 | Achchuthan Shanmugasundram Classified gene: STX16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.16 | STX16 | Achchuthan Shanmugasundram Gene: stx16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.15 | STX16 | Achchuthan Shanmugasundram Publications for gene: STX16 were set to PMID: 27338644; 28453643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.14 | STX16 | Achchuthan Shanmugasundram Phenotypes for gene: STX16 were changed from Obesity with pseudohypoparathyroidism type 1B to Pseudohypoparathyroidism, type IB OMIM:603233; Obesity, HP:0001513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.13 | STX16 | Achchuthan Shanmugasundram Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.12 | STX16 | Achchuthan Shanmugasundram edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.12 | STX16 |
Achchuthan Shanmugasundram changed review comment from: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion. PMID:28453643 reported five patients reported with obesity with onset ranging from 3-12 months of age. Deletion of STX16 gene (either 3-kb or 4.4-kb) was reported in these cases confirming genetic diagnosis of Pseudohypoparathyroidism, type IB. All these patients inherited STX16 deletions from their unaffected mothers, and these deletions reside on paternal allele of these mothers. This indicates that maternally inherited deletions are associated with the phenotype. Excessive weight gain preceded other clinical or laboratory signs of PHP1B by more than a decade in some patients. One of these patients had symptomatic hypocalcemia and elevated PTH levels when admitted to hospital at 11.5 years, and another was reported with asymptomatic hypocalcemia and an elevated PTH level only after establishing the genetic defect. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf) the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years and in the absence of significant features. All the cases reported above had early onset obesity before the age of 5 and appears severe. However, the patient from PMID:27338644 had other presentations such as macrosomia and macrocephaly suggesting the phenotype is syndromic. Although some of the cases reported in PMID:28453643 had hypocalcemia and an elevated PTH level, their onset was much later than that of obesity. Hence, it is useful to include this gene on this panel to get diagnosis for patients early in their life and before the onset of PHP1B. Clinical opinion is therefore sought in relation to promoting this gene to green rating on this panel. ; to: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion. PMID:28453643 reported five patients reported with obesity with onset ranging from 3-12 months of age. Deletion of STX16 gene (either 3-kb or 4.4-kb) was reported in these cases confirming genetic diagnosis of Pseudohypoparathyroidism, type IB. All these patients inherited STX16 deletions from their unaffected mothers, and these deletions reside on paternal allele of these mothers. This indicates that maternally inherited deletions are associated with the phenotype. Excessive weight gain preceded other clinical or laboratory signs of PHP1B by more than a decade in some patients. One of these patients had symptomatic hypocalcemia and elevated PTH levels when admitted to hospital at 11.5 years, and another was reported with asymptomatic hypocalcemia and an elevated PTH level only after establishing the genetic defect. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf) the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years and in the absence of significant features. All the cases reported above had early onset obesity before the age of 5 and appears severe. However, the patient from PMID:27338644 had other presentations such as macrosomia and macrocephaly suggesting the phenotype is syndromic. Although some of the cases reported in PMID:28453643 had hypocalcemia and an elevated PTH level, their onset was much later than that of obesity. Hence, it is useful to include this gene on this panel to get diagnosis for patients early in their life and before the onset of PHP1B. Clinical opinion is therefore sought in relation to promoting this gene to green rating on this panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.12 | STX16 |
Achchuthan Shanmugasundram changed review comment from: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion.; to: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion. PMID:28453643 reported five patients reported with obesity with onset ranging from 3-12 months of age. Deletion of STX16 gene (either 3-kb or 4.4-kb) was reported in these cases confirming genetic diagnosis of Pseudohypoparathyroidism, type IB. All these patients inherited STX16 deletions from their unaffected mothers, and these deletions reside on paternal allele of these mothers. This indicates that maternally inherited deletions are associated with the phenotype. Excessive weight gain preceded other clinical or laboratory signs of PHP1B by more than a decade in some patients. One of these patients had symptomatic hypocalcemia and elevated PTH levels when admitted to hospital at 11.5 years, and another was reported with asymptomatic hypocalcemia and an elevated PTH level only after establishing the genetic defect. As per the eligibility criteria on the National Genomic Test Directory (https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-inherited-disease-eligibility-criteria-v8.0.pdf) the patients should have BMI more than 3 standard deviations above the mean, with onset before the age of 5 years and in the absence of significant features. All the cases reported above had early onset obesity before the age of 5 and appears severe. However, the patient from PMID:27338644 had other presentations such as macrosomia and macrocephaly suggesting the phenotype is syndromic. Although some of the cases reported in PMID:28453643 had hypocalcemia and an elevated PTH level, their onset was much later than that of obesity. Hence, it is useful to include this gene on this panel to get diagnosis for patients early in their life and before the onset of PHP1B. Clinical opinion is therefore sought in relation to promoting this gene to green rating on this panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.12 | STX16 | Achchuthan Shanmugasundram commented on gene: STX16: PMID:27338644 reported a female infant presenting with macrocosmia, early-onset obesity and macrocephaly. The patient had a BMI of +3.7 SD for the age at 1.5 years. She was identified with a previously described recurrent 3-kb STX16 deletion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v5.12 | STX16 | Achchuthan Shanmugasundram reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 27338644, 28453643; Phenotypes: Pseudohypoparathyroidism, type IB OMIM:603233, Obesity, HP:0001513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.12 | STX16 |
Dmitrijs Rots gene: STX16 was added gene: STX16 was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STX16 were set to PMID: 27338644; 28453643 Phenotypes for gene: STX16 were set to Obesity with pseudohypoparathyroidism type 1B Penetrance for gene: STX16 were set to Incomplete Review for gene: STX16 was set to GREEN Added comment: PMID: 27338644 & PMID: 28453643 shows that STX16 deletions, causing GNAS methylation defects, result in obesity. GNAS is already on this panel as green. Enough evidence for the green rating. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||