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Lipodystrophy - childhood onset v4.66 POC1A Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: POC1A.
Lipodystrophy - childhood onset v4.66 POC1A Achchuthan Shanmugasundram commented on gene: POC1A: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Lipodystrophy - childhood onset v4.65 POC1A Achchuthan Shanmugasundram Source Expert Review Green was added to POC1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lipodystrophy - childhood onset v4.54 POC1A Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: POC1A.
Lipodystrophy - childhood onset v4.54 POC1A Achchuthan Shanmugasundram Deleted their comment
Lipodystrophy - childhood onset v4.54 POC1A Achchuthan Shanmugasundram commented on gene: POC1A: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Lipodystrophy - childhood onset v4.53 POC1A Achchuthan Shanmugasundram Source Expert Review Amber was added to POC1A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Lipodystrophy - childhood onset v4.52 POC1A Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: POC1A.
Tag Q3_23_NHS_review was removed from gene: POC1A.
Lipodystrophy - childhood onset v4.52 POC1A 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.
Lipodystrophy - childhood onset v4.52 POC1A Achchuthan Shanmugasundram commented on gene: POC1A: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Lipodystrophy - childhood onset v4.51 POC1A Achchuthan Shanmugasundram Source Expert Review Green was added to POC1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lipodystrophy - childhood onset v4.27 POC1A Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: POC1A.
Tag Q3_23_NHS_review tag was added to gene: POC1A.
Lipodystrophy - childhood onset v4.27 POC1A Achchuthan Shanmugasundram Classified gene: POC1A as Amber List (moderate evidence)
Lipodystrophy - childhood onset v4.27 POC1A Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by the NHS, there is sufficient evidence (9 unrelated cases) in support of the association of this gene with severe dyslipidaemic insulin resistance. Hence, this gene can be promoted to green rating at the next GMS review.
Lipodystrophy - childhood onset v4.27 POC1A Achchuthan Shanmugasundram Gene: poc1a has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v4.26 POC1A Achchuthan Shanmugasundram Phenotypes for gene: POC1A were changed from SOFT syndrome, Severe insulin resistance to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813; Insulin resistance, HP:0000855
Lipodystrophy - childhood onset v4.25 POC1A Achchuthan Shanmugasundram Publications for gene: POC1A were set to
Lipodystrophy - childhood onset v4.24 POC1A Achchuthan Shanmugasundram edited their review of gene: POC1A: Changed publications to: 22440536, 26336158, 28819016, 33372278, 35234134
Lipodystrophy - childhood onset v4.24 POC1A Achchuthan Shanmugasundram edited their review of gene: POC1A: Changed rating: GREEN; Changed publications to: 22440536, 26336158, 28819016,33372278, 35234134
Lipodystrophy - childhood onset v4.24 POC1A Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278 ,22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278, 22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Lipodystrophy - childhood onset v4.24 POC1A Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: 9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278 ,22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278 ,22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Lipodystrophy - childhood onset v4.15 PCNT Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Severe insulin resistance in the absence of frank lipodystrophy is a common feature of Microcephalic osteodysplastic primordial dwarfism, type II due to PCNT mutations (PMID: 21270239). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Severe insulin resistance in the absence of frank lipodystrophy is a common feature of Microcephalic osteodysplastic primordial dwarfism, type II due to PCNT mutations (PMID: 21270239). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Lipodystrophy - childhood onset v4.12 ALMS1 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Severe insulin resistance and its metabolic sequalae are common in Almstrom syndrome (PMID: 32958032, 16720663) which is disproportionate to their adiposity (PMID: 29718281). Along with PCNT and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Severe insulin resistance and its metabolic sequalae are common in Almstrom syndrome (PMID: 32958032, 16720663) which is disproportionate to their adiposity (PMID: 29718281). Along with PCNT and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Lipodystrophy - childhood onset v4.3 POC1A Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: SOFT syndrome, Severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy - childhood onset v4.2 POC1A Achchuthan Shanmugasundram gene: POC1A was added
gene: POC1A was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to SOFT syndrome, Severe insulin resistance