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Severe insulin resistance and lipodystrophy syndromes v4.66 ALMS1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: ALMS1.
Severe insulin resistance and lipodystrophy syndromes v4.66 ALMS1 Achchuthan Shanmugasundram commented on gene: ALMS1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.65 ALMS1 Achchuthan Shanmugasundram Source Expert Review Green was added to ALMS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.54 ALMS1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: ALMS1.
Severe insulin resistance and lipodystrophy syndromes v4.54 ALMS1 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 ALMS1 Achchuthan Shanmugasundram commented on gene: ALMS1: 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 ALMS1 Achchuthan Shanmugasundram Source Expert Review Amber was added to ALMS1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.52 ALMS1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ALMS1.
Tag Q3_23_NHS_review was removed from gene: ALMS1.
Severe insulin resistance and lipodystrophy syndromes v4.52 ALMS1 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 ALMS1 Achchuthan Shanmugasundram commented on gene: ALMS1: 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 ALMS1 Achchuthan Shanmugasundram Source Expert Review Green was added to ALMS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes 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.
Severe insulin resistance and lipodystrophy syndromes 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.
Severe insulin resistance and lipodystrophy syndromes 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.
Severe insulin resistance and lipodystrophy syndromes v4.15 ALMS1 Achchuthan Shanmugasundram Classified gene: ALMS1 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.15 ALMS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.15 ALMS1 Achchuthan Shanmugasundram Gene: alms1 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.14 ALMS1 Achchuthan Shanmugasundram edited their review of gene: ALMS1: Changed phenotypes to: Alstrom syndrome, severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.14 ALMS1 Achchuthan Shanmugasundram Phenotypes for gene: ALMS1 were changed from BIALLELIC, autosomal or pseudoautosomal to Alstrom syndrome, OMIM:203800
Severe insulin resistance and lipodystrophy syndromes v4.13 ALMS1 Achchuthan Shanmugasundram edited their review of gene: ALMS1: Changed phenotypes to: Almstrom syndrome, severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.13 ALMS1 Achchuthan Shanmugasundram Publications for gene: ALMS1 were set to
Severe insulin resistance and lipodystrophy syndromes v4.12 ALMS1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ALMS1.
Tag Q3_23_NHS_review tag was added to gene: ALMS1.
Severe insulin resistance and lipodystrophy syndromes v4.12 ALMS1 Achchuthan Shanmugasundram edited their review of gene: ALMS1: Added comment: Among 12 unrelated cases with Alstrom syndrome, 10 were identified with ALMS1 variants, of which five had potential founder variant in exon 16. These AS patients had severe early-onset obesity, insulin resistance that increased with age, diabetes, hypertriglyceridemia, and hypertension (PMID:16720663).

Evaluation of 38 patients with AS and matched controls showed that frequent abnormalities include obesity, severe insulin resistance, type 2 diabetes mellitus and adult hypogonadism (PMID:29718281).

This gene has been associated with AS in both OMIM (MIM #203800) and Gene2Phenotype (definitive rating).; Changed rating: GREEN; Changed publications to: 16720663, 29718281, 32958032
Severe insulin resistance and lipodystrophy syndromes 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.
Severe insulin resistance and lipodystrophy syndromes v4.3 ALMS1 Achchuthan Shanmugasundram reviewed gene: ALMS1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: BIALLELIC, autosomal or pseudoautosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.2 ALMS1 Achchuthan Shanmugasundram gene: ALMS1 was added
gene: ALMS1 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to BIALLELIC, autosomal or pseudoautosomal