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Severe insulin resistance and lipodystrophy syndromes v4.66 BLM Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.66 BLM Achchuthan Shanmugasundram commented on gene: BLM: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.65 BLM Achchuthan Shanmugasundram Source Expert Review Green was added to BLM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.54 BLM Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.54 BLM Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 BLM Achchuthan Shanmugasundram commented on gene: BLM: 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 BLM Achchuthan Shanmugasundram Source Expert Review Amber was added to BLM.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.52 BLM Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: BLM.
Tag Q3_23_NHS_review was removed from gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.52 BLM 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 BLM Achchuthan Shanmugasundram commented on gene: BLM: 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 BLM Achchuthan Shanmugasundram Source Expert Review Green was added to BLM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.47 BLM Achchuthan Shanmugasundram Classified gene: BLM as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.47 BLM Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with severe insulin resistance and hence it can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.47 BLM Achchuthan Shanmugasundram Gene: blm has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.46 BLM Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: BLM.
Tag Q3_23_NHS_review tag was added to gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.46 BLM Achchuthan Shanmugasundram Publications for gene: BLM were set to 7585968; 16763388; 21536711; 27710244; 2823277; 2947793
Severe insulin resistance and lipodystrophy syndromes v4.45 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Changed publications to: 7585968, 16763388, 21536711, 27710244, 28232778, 29477938
Severe insulin resistance and lipodystrophy syndromes v4.45 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Changed publications to: 7585968, 16763388, 21536711, 27710244, 28232778, 2947793
Severe insulin resistance and lipodystrophy syndromes v4.45 BLM Achchuthan Shanmugasundram Publications for gene: BLM were set to 7585968; 16763388; 2153671; 27710244; 2823277; 2947793
Severe insulin resistance and lipodystrophy syndromes v4.44 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Changed publications to: 7585968, 16763388, 21536711, 27710244, 2823277, 2947793
Severe insulin resistance and lipodystrophy syndromes v4.44 BLM Achchuthan Shanmugasundram Publications for gene: BLM were set to
Severe insulin resistance and lipodystrophy syndromes v4.43 BLM Achchuthan Shanmugasundram Phenotypes for gene: BLM were changed from Bloom Syndrome, severe insulin resistance to Bloom syndrome, OMIM:210900; Insulin resistance, HP:0000855
Severe insulin resistance and lipodystrophy syndromes v4.42 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Added comment: Insulin resistance was observed in six individuals and lipid profile abnormalities were reported in five of ten individuals with Bloom syndrome (PMID:16763388).; Changed rating: GREEN; Changed publications to: 7585968, 16763388, 2153671, 27710244, 2823277, 2947793
Severe insulin resistance and lipodystrophy syndromes v4.12 BLM Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/174/gene/BLM/#!details), partial lipodystrophy and insulin resistance is a recognised clinical feature of bloom syndrome (PMID: 21536711, 29477938, 16763388) and 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:
Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/174/gene/BLM/#!details), partial lipodystrophy and insulin resistance is a recognised clinical feature of bloom syndrome (PMID: 21536711, 29477938, 16763388) and 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 BLM Achchuthan Shanmugasundram reviewed gene: BLM: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom Syndrome, severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.2 BLM Achchuthan Shanmugasundram gene: BLM was added
gene: BLM was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom Syndrome, severe insulin resistance