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Severe insulin resistance and lipodystrophy syndromes v4.66 WRN Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.66 WRN Achchuthan Shanmugasundram commented on gene: WRN: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.65 WRN Achchuthan Shanmugasundram Source Expert Review Green was added to WRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.54 WRN Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.54 WRN Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 WRN Achchuthan Shanmugasundram commented on gene: WRN: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.53 WRN Achchuthan Shanmugasundram Source Expert Review Amber was added to WRN.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.52 WRN Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 WRN Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: WRN.
Tag Q3_23_NHS_review was removed from gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.52 WRN Achchuthan Shanmugasundram commented on gene: WRN: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.51 WRN Achchuthan Shanmugasundram Source Expert Review Green was added to WRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.12 WRN Achchuthan Shanmugasundram Classified gene: WRN as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.12 WRN Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases) in support of the association of this gene to severe insulin resistance/ diabetes and partial lipodystrophy and hence can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.12 WRN Achchuthan Shanmugasundram Gene: wrn has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.11 WRN Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: WRN.
Tag Q3_23_NHS_review tag was added to gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.11 WRN Achchuthan Shanmugasundram Phenotypes for gene: WRN were changed from Werner's Syndrome, partial lipodystrophy, severe insulin resistance to Werner syndrome, OMIM:277700
Severe insulin resistance and lipodystrophy syndromes v4.10 WRN Achchuthan Shanmugasundram Publications for gene: WRN were set to
Severe insulin resistance and lipodystrophy syndromes v4.9 WRN Achchuthan Shanmugasundram edited their review of gene: WRN: Added comment: PMID:22654791 - A homozygous variant (p.Arg732Xaa) in WRN gene has been identified in a 16-year-old female patient with a syndrome comprising short stature, severe insulin resistance, ptosis, and microcephaly.

PMID:23849162 - Biallelic WRN null variants (p.Gln748Xaa homozygous, and compound heterozygous p.Gln1257Xaa/ p.Met1329fs) were identified in two female patients who presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them also had diabetes.

PMID:35780059 - Compound heterozygous variants (c.1290_1293del/ p.Asn430Lysfs*7 & c.2732+5G>A) in WRN gene was identified in a 28 year-old woman who presented with early onset diabetes associated with partial lipodystrophy, severe dyslipidaemia and rapidly progressive liver fibrosis related to non-alcoholic steatohepatitis in the absence of progeroid features.

This gene has been associated with Werner syndrome in both OMIM (MIM #277700) and Gene2Phenotype.; Changed rating: GREEN; Changed publications to: 22654791, 23849162, 27710244, 35780059
Severe insulin resistance and lipodystrophy syndromes v4.9 WRN Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Premature insulin resistant diabetes is widely recognised as a complication of Werner's syndrome and lipoatrophy is commonly reported. Crucially - 3 independent pedigrees have now reported lipodystrophy and/or severe insulin resistance as presenting features of Werner's syndrome highlighting that this condition needs to be considered in the differential diagnosis of lipodystrophy (PMID: 22654791, 35780059, 23849162). It has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Premature insulin resistant diabetes is widely recognised as a complication of Werner's syndrome and lipoatrophy is commonly reported. Crucially - 3 independent pedigrees have now reported lipodystrophy and/or severe insulin resistance as presenting features of Werner's syndrome highlighting that this condition needs to be considered in the differential diagnosis of lipodystrophy (PMID: 22654791, 35780059, 23849162). It has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).
Severe insulin resistance and lipodystrophy syndromes v4.3 WRN Achchuthan Shanmugasundram reviewed gene: WRN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner's Syndrome, partial lipodystrophy, severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.2 WRN Achchuthan Shanmugasundram gene: WRN was added
gene: WRN was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner's Syndrome, partial lipodystrophy, severe insulin resistance