Lipodystrophy - childhood onset
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 31 Dec 2025, 7:17 p.m. | Last Modified: 31 Dec 2025, 7:17 p.m.
Panel Version: 4.66
This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.Created: 17 Jun 2024, 8:59 a.m. | Last Modified: 17 Jun 2024, 8:59 a.m.
Panel Version: 4.54
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Alstrom syndrome, OMIM:203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Alstrom syndrome
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Lipodystrophy - childhood onset
- Bardet Biedl syndrome
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: ALMS1.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to ALMS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: ALMS1.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Amber was added to ALMS1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: ALMS1. Tag Q3_23_NHS_review was removed from gene: ALMS1.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to ALMS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: alms1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ALMS1 were changed from BIALLELIC, autosomal or pseudoautosomal to Alstrom syndrome, OMIM:203800
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ALMS1 were set to
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: ALMS1. Tag Q3_23_NHS_review tag was added to gene: ALMS1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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