Lipodystrophy - childhood onset
Gene: ALMS1
Comment on list classification: There is sufficient evidence available to promote this gene to green rating at the next GMS review.Created: 3 Aug 2023, 6:38 p.m. | Last Modified: 3 Aug 2023, 6:38 p.m.
Panel Version: 4.15
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).Created: 3 Aug 2023, 6:35 p.m. | Last Modified: 3 Aug 2023, 6:35 p.m.
Panel Version: 4.12
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.Created: 2 Aug 2023, 11:35 a.m. | Last Modified: 3 Aug 2023, 5:47 p.m.
Panel Version: 4.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome, severe insulin resistance
Publications
Gene: alms1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ALMS1 were changed from BIALLELIC, autosomal or pseudoautosomal to Alstrom syndrome, OMIM:203800
Publications for gene: ALMS1 were set to
Tag Q3_23_promote_green tag was added to gene: ALMS1. Tag Q3_23_NHS_review tag was added to gene: ALMS1.
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