Severe early-onset obesity

Gene: ALMS1

Green List (high evidence)

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 26 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, 203800
Created: 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)

Green List (high evidence)

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 obesity
Created: 7 Jul 2016, 7:35 a.m.

stephen o'rahilly (university of cambridge)

Green List (high evidence)

This does not, as stated, cause CONGENITAL obesity (few if any cases of genetic obesity are truly congenital)
Obesity is variable in Alstroms syndrome
Created: 8 Nov 2015, 6:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2021, Gel status: 3

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

15 Aug 2019, Gel status: 3

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

25 Oct 2016, Gel status: 4

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.

18 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to Alstrom syndrome associated with obesity;Truncal obesity (onset in childhood)

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to Alstrom syndrome associated with obesity

22 Jul 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to Alstroms syndrome associated with obesity.

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ayesha Ahmed (GEL)

Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

18 Aug 2015, Gel status: 1

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