Severe early-onset obesity
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800Created: 16 Mar 2021, 2:52 p.m. | Last Modified: 16 Mar 2021, 2:52 p.m.
Panel Version: 2.4
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This is a confirmed DD gene for Alstrom syndrome.Created: 22 Jul 2016, 1:08 p.m.
Ayesha Ahmed (GEL)
Comment on list classification: alstrom syn assoc with obesityCreated: 7 Jul 2016, 7:35 a.m.
stephen o'rahilly (university of cambridge)
This does not, as stated, cause CONGENITAL obesity (few if any cases of genetic obesity are truly congenital)
Obesity is variable in Alstroms syndromeCreated: 8 Nov 2015, 6:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Alstrom syndrome, OMIM:203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Alstrom syndrome
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Monogenic diabetes
- 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
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to ALMS1. Added phenotypes Alstrom syndrome, 203800 for gene: ALMS1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome associated with obesity;Truncal obesity (onset in childhood)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome associated with obesity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstroms syndrome associated with obesity.
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ayesha Ahmed (GEL)Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ALMS1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory